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

Status: current, Not 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
128959018 Multiple malformation syndrome, moderate short stature, facial en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
128961010 Multiple malformation syndrome, moderate short stature, facial with or without genital features en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
818561014 Multiple malformation syndrome, moderate short stature, facial (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
128959018 Multiple malformation syndrome, moderate short stature, facial en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
128959018 Multiple malformation syndrome, moderate short stature, facial en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
128961010 Multiple malformation syndrome, moderate short stature, facial with or without genital features en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
128961010 Multiple malformation syndrome, moderate short stature, facial with or without genital features en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
818561014 Multiple malformation syndrome, moderate short stature, facial (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
818561014 Multiple malformation syndrome, moderate short stature, facial (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4643731000241112 syndrome d'anomalies congénitales multiples faciales, retard statural moyen fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4643731000241112 syndrome d'anomalies congénitales multiples faciales, retard statural moyen fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

8 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 (core metadata concept)
Multiple malformation syndrome, moderate short stature, facial Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome, moderate short stature, facial Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome, moderate short stature, facial Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome, moderate short stature, facial Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome, moderate short stature, facial Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome, moderate short stature, facial Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 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 (core metadata concept)
Aarskog syndrome Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Existential restriction modifier (core metadata concept)
Dolichocephalic dwarfism (disorder) Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Existential restriction modifier (core metadata concept)
Smith-Lemli-Opitz syndrome Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Existential restriction modifier (core metadata concept)
Williams syndrome Is a False Multiple malformation syndrome, moderate short stature, facial Inferred relationship Existential restriction modifier (core metadata concept)
Robinow syndrome Is a False Multiple malformation syndrome, moderate short stature, facial Inferred relationship Existential restriction modifier (core metadata concept)
Opitz-Frias syndrome Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Existential restriction modifier (core metadata concept)
Noonan syndrome Is a False Multiple malformation syndrome, moderate short stature, facial Inferred relationship Existential restriction modifier (core metadata concept)
Bovine achondroplasia Is a False Multiple malformation syndrome, moderate short stature, facial Inferred relationship Existential restriction modifier (core metadata concept)
Noonan's syndrome Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Existential restriction modifier (core metadata concept)
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Existential restriction modifier (core metadata concept)
Short stature with valvular heart disease and characteristic facies syndrome (disorder) Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Existential restriction modifier (core metadata concept)
Robinow-like syndrome Is a False Multiple malformation syndrome, moderate short stature, facial Inferred relationship Existential restriction modifier (core metadata concept)
Noonan syndrome-like disorder with loose anagen hair (disorder) Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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