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77701002: Multiple malformation syndrome, moderate short stature, facial (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
128959018 Multiple malformation syndrome, moderate short stature, facial en Synonym Active Entire term case insensitive SNOMED CT core module
128961010 Multiple malformation syndrome, moderate short stature, facial with or without genital features en Synonym Active Entire term case insensitive SNOMED CT core module
818561014 Multiple malformation syndrome, moderate short stature, facial (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

11 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Multiple malformation syndrome, moderate short stature, facial Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier
Multiple malformation syndrome, moderate short stature, facial Occurrence Congenital false Inferred relationship Existential restriction modifier
Multiple malformation syndrome, moderate short stature, facial Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier
Multiple malformation syndrome, moderate short stature, facial Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Multiple malformation syndrome, moderate short stature, facial Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 1
Multiple malformation syndrome, moderate short stature, facial Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Multiple malformation syndrome, moderate short stature, facial Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Brachycephalic dwarfism Is a False Multiple malformation syndrome, moderate short stature, facial Inferred relationship Existential restriction modifier
Aarskog syndrome Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Existential restriction modifier
Dolichocephalic dwarfism Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Existential restriction modifier
Smith-Lemli-Opitz syndrome Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Existential restriction modifier
Williams syndrome Is a False Multiple malformation syndrome, moderate short stature, facial Inferred relationship Existential restriction modifier
Robinow syndrome Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Existential restriction modifier
Opitz-Frias syndrome Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Existential restriction modifier
Noonan syndrome Is a False Multiple malformation syndrome, moderate short stature, facial Inferred relationship Existential restriction modifier
Bovine achondroplasia Is a False Multiple malformation syndrome, moderate short stature, facial Inferred relationship Existential restriction modifier
Noonan's syndrome Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Existential restriction modifier
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Existential restriction modifier
Short stature with valvular heart disease and characteristic facies syndrome Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Existential restriction modifier
Robinow-like syndrome Is a False Multiple malformation syndrome, moderate short stature, facial Inferred relationship Existential restriction modifier
Noonan syndrome-like disorder with loose anagen hair Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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