FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

1208338004: Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder)

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
5399804014 A rare developmental defect during embryogenesis disorder characterized by spinal dysraphism, cleft lip and palate, limb reduction defects and anencephaly. There have been no further descriptions in the literature since 1994. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399805010 A rare developmental defect during embryogenesis disorder characterised by spinal dysraphism, cleft lip and palate, limb reduction defects and anencephaly. There have been no further descriptions in the literature since 1994. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
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
5399804014 A rare developmental defect during embryogenesis disorder characterized by spinal dysraphism, cleft lip and palate, limb reduction defects and anencephaly. There have been no further descriptions in the literature since 1994. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399805010 A rare developmental defect during embryogenesis disorder characterised by spinal dysraphism, cleft lip and palate, limb reduction defects and anencephaly. There have been no further descriptions in the literature since 1994. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3431441001000116 Dysraphie mit Lippen-Kiefer-Gaumen-Spalte und Reduktionsdefekt der Extremitäten de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3431441001000116 Dysraphie mit Lippen-Kiefer-Gaumen-Spalte und Reduktionsdefekt der Extremitäten de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder) Is a Structural developmental anomalies of neurenteric canal (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder) Is a Longitudinal deficiency of limb true Inferred relationship Existential restriction modifier (core metadata concept)
Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder) Is a Genetic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder) Is a Anencephalus (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder) Finding site Lip structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder) Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder) Finding site Entire limb true Inferred relationship Existential restriction modifier (core metadata concept) 3
Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder) Associated morphology Abnormal shortening true Inferred relationship Existential restriction modifier (core metadata concept) 3
Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder) Finding site Neurenteric canal true Inferred relationship Existential restriction modifier (core metadata concept) 4
Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder) Is a Cleft palate with cleft lip true Inferred relationship Existential restriction modifier (core metadata concept)
Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder) Finding site Palatal structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

Back to Start