FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.1  |  FHIR Version n/a  User: [n/a]

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

Status: current, Primitive. 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 Active Case insensitive SNOMED CT core
128960011 Multiple malformation syndrome, moderate short stature, facial with or without genital features, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
128961010 Multiple malformation syndrome, moderate short stature, facial with or without genital features en Synonym Active Case insensitive SNOMED CT core
818561014 Multiple malformation syndrome, moderate short stature, facial (disorder) en Fully specified name Active Case insensitive 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 Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Multiple malformation syndrome, moderate short stature, facial Pathological process Pathological developmental process true Inferred relationship Some 1
Multiple malformation syndrome, moderate short stature, facial Associated morphology Congenital malformation false Inferred relationship Some
Multiple malformation syndrome, moderate short stature, facial Is a Multiple system malformation syndrome true Inferred relationship Some
Multiple malformation syndrome, moderate short stature, facial Occurrence Congenital true Inferred relationship Some 1
Multiple malformation syndrome, moderate short stature, facial Associated morphology Developmental abnormality false Inferred relationship Some 1
Multiple malformation syndrome, moderate short stature, facial Occurrence Congenital false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Brachycephalic dwarfism Is a False Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Aarskog syndrome Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Dolichocephalic dwarfism Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Smith-Lemli-Opitz syndrome Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Bovine achondroplasia Is a False Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Williams syndrome Is a False Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Noonan's syndrome Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Robinow syndrome Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Opitz-Frias syndrome Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Noonan syndrome Is a False Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Thong Douglas Ferrante syndrome Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Short stature with valvular heart disease and characteristic facies syndrome Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Robinow-like syndrome Is a False Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Noonan syndrome-like disorder with loose anagen hair Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start