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722284009: Hypoplasia and coloboma of alar cartilage with telecanthus 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
3331431016 Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331432011 Hypoplasia and coloboma of alar cartilage with telecanthus syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331433018 Alar cartilage hypoplasia, coloboma, telecanthus syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331434012 A very rare dysmorphic disorder with characteristics of hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976. 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
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) localisation d'une constatation (attribut) Structure of palpebral fissure true Inferred relationship Some 2
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) true Inferred relationship Some 1
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 3
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) est un(e) (attribut) Congenital cleft nose true Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) est un(e) (attribut) Congenital anomaly of cartilage true Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) est un(e) (attribut) Congenital anomaly of eyelid true Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) est un(e) (attribut) Congenital hypoplasia of nose true Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) est un(e) (attribut) Telecanthus true Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) est un(e) (attribut) Disorder of soft tissue of head true Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) est un(e) (attribut) Connective tissue hereditary disorder true Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) morphologie associée (attribut) Congenital failure of fusion false Inferred relationship Some 5
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) localisation d'une constatation (attribut) Alar cartilage structure false Inferred relationship Some 5
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) false Inferred relationship Some 3
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) localisation d'une constatation (attribut) Alar cartilage structure true Inferred relationship Some 3
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 4
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) localisation d'une constatation (attribut) Structure of palpebral fissure false Inferred relationship Some 4
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 1
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) localisation d'une constatation (attribut) Alar cartilage structure true Inferred relationship Some 1
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) est un(e) (attribut) Lesion of nose false Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) est un(e) (attribut) lésion de tissu mou true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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