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715441004: McDonough syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3302644015 McDonough syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302645019 McDonough syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5155297017 Belongs to the group of multiple congenital anomalies/intellectual disabilities syndromes with intellectual deficit, distinctive facies (upward slanting palpebral fissures, squint), kyphoscoliosis, diastasis recti, cryptorchidism, and a congenital heart defect. Autosomal recessive inheritance suggested. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
McDonough syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
McDonough syndrome (disorder) Is a Mental retardation false Inferred relationship Some
McDonough syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 1
McDonough syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
McDonough syndrome (disorder) Finding site Face structure true Inferred relationship Some 1
McDonough syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
McDonough syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
McDonough syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
McDonough syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 2
McDonough syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 2
McDonough syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 3
McDonough syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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