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719652007: 2p21 microdeletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3317251017 2p21 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3317252012 2p21 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3317253019 Monosomy 2p21 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402185010 The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5429462014 The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidaemia. 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
2p21 microdeletion syndrome (disorder) Is a Anomaly of chromosome pair 2 false Inferred relationship Some
2p21 microdeletion syndrome (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Some
2p21 microdeletion syndrome (disorder) Is a Deletion of part of autosome false Inferred relationship Some
2p21 microdeletion syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
2p21 microdeletion syndrome (disorder) Finding site Chromosome pair 2 false Inferred relationship Some 2
2p21 microdeletion syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
2p21 microdeletion syndrome (disorder) Finding site Chromosome pair 2 false Inferred relationship Some 3
2p21 microdeletion syndrome (disorder) Associated morphology Deletion of short arm false Inferred relationship Some 2
2p21 microdeletion syndrome (disorder) Associated morphology Partial monosomy (morphologic abnormality) false Inferred relationship Some 3
2p21 microdeletion syndrome (disorder) Is a Deletion of part of short arm of chromosome 2 (disorder) true Inferred relationship Some
2p21 microdeletion syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
2p21 microdeletion syndrome (disorder) Is a Multiple system malformation syndrome false Inferred relationship Some
2p21 microdeletion syndrome (disorder) Finding site Short arm of chromosome true Inferred relationship Some 2
2p21 microdeletion syndrome (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
2p21 microdeletion syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
2p21 microdeletion syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
2p21 microdeletion syndrome (disorder) Finding site Chromosome pair 2 true Inferred relationship Some 1
2p21 microdeletion syndrome (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
2p21 microdeletion syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
2p21 microdeletion syndrome (disorder) Is a Developmental delay true Inferred relationship Some
2p21 microdeletion syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
2p21 microdeletion syndrome (disorder) Is a Kidney stone true Inferred relationship Some
2p21 microdeletion syndrome (disorder) Interprets Muscle tone true Inferred relationship Some 6
2p21 microdeletion syndrome (disorder) Finding site Skeletal muscle structure true Inferred relationship Some 5
2p21 microdeletion syndrome (disorder) Finding site Face structure true Inferred relationship Some 3
2p21 microdeletion syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
2p21 microdeletion syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
2p21 microdeletion syndrome (disorder) Finding site Kidney structure true Inferred relationship Some 4
2p21 microdeletion syndrome (disorder) Associated morphology Lithiasis true Inferred relationship Some 4
2p21 microdeletion syndrome (disorder) Is a Cystinuria, type 1 true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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