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720456009: Acromegaloid facial appearance syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3320822014 Acromegaloid facial appearance syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3320823016 Acromegaloid facial appearance syndrome en Synonym Active Case insensitive SNOMED CT core
3320824010 A multiple congenital anomalies/dysmorphic syndrome with characteristics of a progressively coarse acromegaloid-like facial appearance, thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. The syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome. en Definition Inactive Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Acromegaloid facial appearance syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Acromegaloid facial appearance syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Acromegaloid facial appearance syndrome Occurrence Congenital true Inferred relationship Some 1
Acromegaloid facial appearance syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Acromegaloid facial appearance syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Acromegaloid facial appearance syndrome Finding site Face structure true Inferred relationship Some 1
Acromegaloid facial appearance syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Acromegaloid facial appearance syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Acromegaloid facial appearance syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Acromegaloid facial appearance syndrome Is a Congenital anomaly of hand true Inferred relationship Some
Acromegaloid facial appearance syndrome Associated morphology Developmental abnormality false Inferred relationship Some 2
Acromegaloid facial appearance syndrome Occurrence Congenital true Inferred relationship Some 2
Acromegaloid facial appearance syndrome Finding site Hand structure true Inferred relationship Some 2
Acromegaloid facial appearance syndrome Associated morphology Developmental abnormality false Inferred relationship Some 3
Acromegaloid facial appearance syndrome Occurrence Congenital false Inferred relationship Some 3
Acromegaloid facial appearance syndrome Finding site Face structure false Inferred relationship Some 2
Acromegaloid facial appearance syndrome Finding site Hand structure false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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