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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


11 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Multiple malformation syndrome, moderate short stature, facial morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Multiple malformation syndrome, moderate short stature, facial Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Multiple malformation syndrome, moderate short stature, facial morphologie associée (attribut) Congenital malformation false Inferred relationship Some
Multiple malformation syndrome, moderate short stature, facial est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Multiple malformation syndrome, moderate short stature, facial survenue (attribut) congénital true Inferred relationship Some 1
Multiple malformation syndrome, moderate short stature, facial morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 1
Multiple malformation syndrome, moderate short stature, facial survenue (attribut) congénital false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Brachycephalic dwarfism est un(e) (attribut) False Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Aarskog syndrome est un(e) (attribut) True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Dolichocephalic dwarfism est un(e) (attribut) True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
syndrome de Smith-Lemli-Opitz est un(e) (attribut) True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Bovine achondroplasia (disorder) est un(e) (attribut) False Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Williams syndrome est un(e) (attribut) False Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Noonan's syndrome est un(e) (attribut) True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Robinow syndrome est un(e) (attribut) True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Opitz-Frias syndrome est un(e) (attribut) True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Noonan syndrome est un(e) (attribut) False Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Short stature with valvular heart disease and characteristic facies syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Robinow-like syndrome (disorder) est un(e) (attribut) False Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Noonan syndrome-like disorder with loose anagen hair (disorder) est un(e) (attribut) True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

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