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719840003: Renal dysplasia with limb defect 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
3318121016 Renal dysplasia with limb defect syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3318122011 Renal dysplasia with limb defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3318123018 Ulbright Hodes syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318124012 Renal dysplasia, mesomelia, radiohumeral fusion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3318125013 Syndrome with characteristics of renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants, all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive. 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
Renal dysplasia with limb defect syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Renal dysplasia with limb defect syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Renal dysplasia with limb defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Renal dysplasia with limb defect syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Renal dysplasia with limb defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Renal dysplasia with limb defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Renal dysplasia with limb defect syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 3
Renal dysplasia with limb defect syndrome (disorder) localisation d'une constatation (attribut) structure d'un rein true Inferred relationship Some 1
Renal dysplasia with limb defect syndrome (disorder) localisation d'une constatation (attribut) face true Inferred relationship Some 2
Renal dysplasia with limb defect syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Renal dysplasia with limb defect syndrome (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 1
Renal dysplasia with limb defect syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Renal dysplasia with limb defect syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Renal dysplasia with limb defect syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Renal dysplasia with limb defect syndrome (disorder) est un(e) (attribut) Renal dysplasia true Inferred relationship Some
Renal dysplasia with limb defect syndrome (disorder) est un(e) (attribut) Hereditary nephropathy (disorder) true Inferred relationship Some
Renal dysplasia with limb defect syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Renal dysplasia with limb defect syndrome (disorder) localisation d'une constatation (attribut) structure d'un membre true Inferred relationship Some 3
Renal dysplasia with limb defect syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Renal dysplasia with limb defect syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 5
Renal dysplasia with limb defect syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Renal dysplasia with limb defect syndrome (disorder) localisation d'une constatation (attribut) face false Inferred relationship Some 5
Renal dysplasia with limb defect syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 3
Renal dysplasia with limb defect syndrome (disorder) localisation d'une constatation (attribut) structure d'un rein false Inferred relationship Some 3
Renal dysplasia with limb defect syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 4
Renal dysplasia with limb defect syndrome (disorder) localisation d'une constatation (attribut) structure d'un membre false Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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