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1208338004: syndroom van dysrafie, cheilopalatoschisis en lengtedefect van extremiteit (aandoening)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4963720011 Dysraphism, cleft lip and palate, limb reduction defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4963721010 Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4963722015 Medeira Dennis Donnai syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
13604871000146114 Syndroom van Medeira-Dennis-Donnai nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13604881000146111 syndroom van dysrafie, cheilopalatoschisis en lengtedefect van extremiteit (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13604891000146113 syndroom van dysrafie, cheilopalatoschisis en lengtedefect van extremiteit nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13604901000146114 syndroom van dysrafie, gespleten gehemelte met gespleten lip en abnormaal korte lengte van ledemaat nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
4963723013 A rare developmental defect during embryogenesis disorder with characteristics of spinal dysraphism, cleft lip and palate, limb reduction defects and anencephaly. 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
Dysraphism, cleft lip and palate, limb reduction defect syndrome Is a Structural developmental anomalies of neurenteric canal (disorder) true Inferred relationship Some
Dysraphism, cleft lip and palate, limb reduction defect syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Dysraphism, cleft lip and palate, limb reduction defect syndrome Is a Longitudinal deficiency of limb true Inferred relationship Some
Dysraphism, cleft lip and palate, limb reduction defect syndrome Is a Genetic disease true Inferred relationship Some
Dysraphism, cleft lip and palate, limb reduction defect syndrome Is a Anencephalus true Inferred relationship Some
Dysraphism, cleft lip and palate, limb reduction defect syndrome Occurrence Congenital true Inferred relationship Some 1
Dysraphism, cleft lip and palate, limb reduction defect syndrome Finding site Lip structure true Inferred relationship Some 1
Dysraphism, cleft lip and palate, limb reduction defect syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
Dysraphism, cleft lip and palate, limb reduction defect syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Dysraphism, cleft lip and palate, limb reduction defect syndrome Occurrence Congenital true Inferred relationship Some 2
Dysraphism, cleft lip and palate, limb reduction defect syndrome Finding site Brain structure true Inferred relationship Some 2
Dysraphism, cleft lip and palate, limb reduction defect syndrome Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 2
Dysraphism, cleft lip and palate, limb reduction defect syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Dysraphism, cleft lip and palate, limb reduction defect syndrome Occurrence Congenital true Inferred relationship Some 3
Dysraphism, cleft lip and palate, limb reduction defect syndrome Finding site Entire limb true Inferred relationship Some 3
Dysraphism, cleft lip and palate, limb reduction defect syndrome Associated morphology Abnormal shortening true Inferred relationship Some 3
Dysraphism, cleft lip and palate, limb reduction defect syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Dysraphism, cleft lip and palate, limb reduction defect syndrome Occurrence Congenital true Inferred relationship Some 4
Dysraphism, cleft lip and palate, limb reduction defect syndrome Finding site Neurenteric canal true Inferred relationship Some 4
Dysraphism, cleft lip and palate, limb reduction defect syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 4
Dysraphism, cleft lip and palate, limb reduction defect syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Dysraphism, cleft lip and palate, limb reduction defect syndrome Is a Cleft palate with cleft lip true Inferred relationship Some
Dysraphism, cleft lip and palate, limb reduction defect syndrome Occurrence Congenital true Inferred relationship Some 5
Dysraphism, cleft lip and palate, limb reduction defect syndrome Finding site Palatal structure true Inferred relationship Some 5
Dysraphism, cleft lip and palate, limb reduction defect syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 5
Dysraphism, cleft lip and palate, limb reduction defect syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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