205294008: Neonatal hypotonia (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\General finding of soft tissue\Poor muscle tone (finding)\Neonatal hypotonia
\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Neonatal neuromuscular disorder\Neonatal hypotonia

\Finding of neonate\Neonatal disorder\Neonatal neuromuscular disorder\Neonatal hypotonia

\Muscle finding\Finding of muscle tone (finding)\Poor muscle tone (finding)\Neonatal hypotonia
\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Myoneural disorder\Neonatal neuromuscular disorder\Neonatal hypotonia

\Musculoskeletal finding\Poor muscle tone (finding)\Neonatal hypotonia
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Myoneural disorder\Neonatal neuromuscular disorder\Neonatal hypotonia

\Disease\Fetal and/or neonatal disorder\Neonatal disorder\Neonatal neuromuscular disorder\Neonatal hypotonia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Myoneural disorder\Neonatal neuromuscular disorder\Neonatal hypotonia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Myoneural disorder\Neonatal neuromuscular disorder\Neonatal hypotonia
\Disease\Disorder of muscle\Disorder of skeletal muscle\Myoneural disorder\Neonatal neuromuscular disorder\Neonatal hypotonia
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Neonatal neuromuscular disorder\Neonatal hypotonia

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

314811010 Neonatal hypotonia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

314812015 Floppy infant en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

314813013 Floppy baby en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

590637019 Neonatal hypotonia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5463087015 Floppy infant syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4884301000241116 hypotonie néonatale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Neonatal hypotonia	Is a	Neonatal neuromuscular disorder	true	Inferred relationship	Some
Neonatal hypotonia	Occurrence	Neonatal	true	Inferred relationship	Some	2
Neonatal hypotonia	Is a	Poor muscle tone (finding)	true	Inferred relationship	Some
Neonatal hypotonia	Finding site	Peripheral nervous system structure	false	Inferred relationship	Some	3
Neonatal hypotonia	Interprets	Muscle tone	true	Inferred relationship	Some	4
Neonatal hypotonia	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Neonatal hypotonia	Occurrence	Neonatal	true	Inferred relationship	Some	1
Neonatal hypotonia	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare multiple congenital anomalies/dysmorphic syndrome characterized by pontocerebellar hypoplasia, hypotonia and respiratory insufficiency. Cardiac anomalies (particularly hypertrophic cardiomyopathy), eye manifestations (congenital cataracts, corneal clouding), seizures and facial dysmorphism (including microcephaly, bitemporal narrowing, absence of eyelashes, short palpebral fissures, small and low-set ears, anteverted nares, microstomia, and micrognathia) are present in the majority of the patients. Additional findings such as hepatosplenomegaly, edema, micropenis/cryptorchidism, hypoglycemia, hypernatremia, increased triglycerides, elevated plasma lactate and decreased plasma cholesterol were reported. Brain imaging may reveal simplified/delayed cortical gyration, dilated ventricles, and periventricular or diffuse white matter abnormalities. It is mostly caused by biallelic deletions in the ATAD3 gene cluster (ATAD3A, ATAD3B and ATAD3C) or by point mutations in the ATAD3A gene. Even though the syndrome is mostly neonatally lethal, some patients, regardless of the type of the mutation/deletion they harbor, may have a less severe condition and may survive.	Is a	True	Neonatal hypotonia	Inferred relationship	Some

Reference Sets