OMOP Concept 37470663
Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
StandardConditionSNOMED1362022003Disorder
Maps from
0
Descendants
0
Valid from
1 Mar 2025
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome across source vocabularies.
- Fatal pontocerebellar hypoplasia, hypotonia, respiratory distress syndrome
- Fatal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
- Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome (disorder)
- síndrome de hipoplasia pontocerebelosa, hipotonía e insuficiencia respiratoria letal
- síndrome de hipoplasia pontocerebelosa, hipotonía e insuficiencia respiratoria letal (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(61)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Congenital pontocerebellar hypoplasia
- 1Developmental hereditary disorder
- 1Hereditary disorder of musculoskeletal system
- 1Hereditary disorder of nervous system
- 1Multiple system malformation syndrome
- 1Neonatal hypotonia
- 1Respiratory insufficiency syndrome of newborn
- 2Autosomal hereditary disorder
- 2Congenital cerebellar hypoplasia
- 2Congenital hypoplasia of brainstem
- 2Congenital malformation syndrome
- 2Developmental disorder
- 2Disorder of musculoskeletal system
- 2Disorder of nervous system
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Neonatal muscle tone disorder
- 2Neonatal neuromuscular disorder
- 2Neonatal respiratory system disorder
- 2Poor muscle tone
- 2Respiratory insufficiency
- 3Congenital hypoplasia of part of brain
- 3Congenital malformation
- 3Congenital malformation of cerebellum
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