205530002: Hypoplasia of muscle (disorder)

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

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Hypoplasia of muscle

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Hypoplasia of muscle

\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Hypoplasia of muscle

\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Hypoplasia of muscle
\Disease\Disorder of muscle\Disorder of skeletal muscle\Hypoplasia of muscle
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Hypoplasia of muscle

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

315184017 Hypoplasia of muscle en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

590912014 Hypoplasia of muscle (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4885601000241114 hypoplasie musculaire 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
Hypoplasia of muscle	Is a	Disorder of skeletal muscle	true	Inferred relationship	Some
Hypoplasia of muscle	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Hypoplasia of muscle	Associated morphology	Hypoplasia	false	Inferred relationship	Some	1
Hypoplasia of muscle	Is a	Lesion of skeletal muscle (disorder)	false	Inferred relationship	Some
Hypoplasia of muscle	Is a	Lesion of soft tissue (disorder)	false	Inferred relationship	Some
Hypoplasia of muscle	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Hypoplasia of muscle	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Asymmetrical hindquarter syndrome of pigs	Is a	False	Hypoplasia of muscle	Inferred relationship	Some
Amyotrophia congenita	Is a	True	Hypoplasia of muscle	Inferred relationship	Some
Hypoplasia of eye muscle	Is a	True	Hypoplasia of muscle	Inferred relationship	Some
syndrome de Cayler	Is a	False	Hypoplasia of muscle	Inferred relationship	Some
A rare, isolated, congenital, head and neck morphological anomaly characterised by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. Although isolated in the majority of cases, newborns presenting with this morphological anomaly should be referred for further screening for 22q11.2 deletion syndrome and/or other coexisting cardiovascular, musculoskeletal, cervicofacial, respiratory, genitourinary and endocrine anomalies.	Is a	True	Hypoplasia of muscle	Inferred relationship	Some
The presence of congenital unilateral hypoplasia of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/infancy. May present as an isolated clinical finding however when it is present in conjunction with other congenital malformations the disorder is referred to as syndrome.	Is a	True	Hypoplasia of muscle	Inferred relationship	Some
Congenital hypoplasia of diaphragm (disorder)	Is a	True	Hypoplasia of muscle	Inferred relationship	Some
Congenital hypoplasia of muscle of abdominal wall (disorder)	Is a	True	Hypoplasia of muscle	Inferred relationship	Some
Congenital hypoplasia of muscle of limb (disorder)	Is a	True	Hypoplasia of muscle	Inferred relationship	Some
Congenital hypoplasia of muscle of pelvis (disorder)	Is a	True	Hypoplasia of muscle	Inferred relationship	Some
Congenital hypoplasia of muscle of neck (disorder)	Is a	True	Hypoplasia of muscle	Inferred relationship	Some
Congenital hypoplasia of pectoral muscle (disorder)	Is a	True	Hypoplasia of muscle	Inferred relationship	Some

This concept is not in any reference sets