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771146007: syndrome d'holoprosencéphalie-dysgénésie caudale (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3704569016 Holoprosencephaly with caudal dysgenesis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3704570015 Holoprosencephaly with caudal dysgenesis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
770231000241111 syndrome d'holoprosencéphalie-dysgénésie caudale (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
964341000172110 syndrome d'holoprosencéphalie-dysgénésie caudale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3704571016 A central nervous system malformation syndrome with characteristics of holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia). 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
Holoprosencephaly with caudal dysgenesis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Holoprosencephaly with caudal dysgenesis syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Holoprosencephaly with caudal dysgenesis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Holoprosencephaly with caudal dysgenesis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Holoprosencephaly with caudal dysgenesis syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Holoprosencephaly with caudal dysgenesis syndrome (disorder) est un(e) (attribut) Disorder of sacrum true Inferred relationship Some
Holoprosencephaly with caudal dysgenesis syndrome (disorder) est un(e) (attribut) Congenital anomaly of lower trunk false Inferred relationship Some
Holoprosencephaly with caudal dysgenesis syndrome (disorder) est un(e) (attribut) Skeletal dysplasia false Inferred relationship Some
Holoprosencephaly with caudal dysgenesis syndrome (disorder) est un(e) (attribut) Sacral spine finding false Inferred relationship Some
Holoprosencephaly with caudal dysgenesis syndrome (disorder) est un(e) (attribut) Congenital anomaly of lower limb false Inferred relationship Some
Holoprosencephaly with caudal dysgenesis syndrome (disorder) est un(e) (attribut) Congenital anomaly of musculoskeletal structure of trunk false Inferred relationship Some
Holoprosencephaly with caudal dysgenesis syndrome (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 3
Holoprosencephaly with caudal dysgenesis syndrome (disorder) est un(e) (attribut) Congenital anomaly of skeletal bone false Inferred relationship Some
Holoprosencephaly with caudal dysgenesis syndrome (disorder) est un(e) (attribut) Congenital anomaly of body wall false Inferred relationship Some
Holoprosencephaly with caudal dysgenesis syndrome (disorder) est un(e) (attribut) Congenital anomaly of the pelvis (disorder) true Inferred relationship Some
Holoprosencephaly with caudal dysgenesis syndrome (disorder) localisation d'une constatation (attribut) Structure of sacral vertebral column region (body structure) true Inferred relationship Some 3
Holoprosencephaly with caudal dysgenesis syndrome (disorder) est un(e) (attribut) Congenital anomaly of spinal cord true Inferred relationship Some
Holoprosencephaly with caudal dysgenesis syndrome (disorder) est un(e) (attribut) Caudal regression syndrome false Inferred relationship Some
Holoprosencephaly with caudal dysgenesis syndrome (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 1
Holoprosencephaly with caudal dysgenesis syndrome (disorder) est un(e) (attribut) holoprosencéphalie (trouble) true Inferred relationship Some
Holoprosencephaly with caudal dysgenesis syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Holoprosencephaly with caudal dysgenesis syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Holoprosencephaly with caudal dysgenesis syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Holoprosencephaly with caudal dysgenesis syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 3
Holoprosencephaly with caudal dysgenesis syndrome (disorder) localisation d'une constatation (attribut) Sacral spine structure false Inferred relationship Some 3
Holoprosencephaly with caudal dysgenesis syndrome (disorder) localisation d'une constatation (attribut) structure de la tête true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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