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721970009: Persistent Mullerian derivative with lymphangiectasia and polydactyly 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
3330027012 Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3330028019 Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3330029010 This syndrome has characteristics of prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure. 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
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) est un(e) (attribut) Lymphatic malformation false Inferred relationship Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) localisation d'une constatation (attribut) structure d'un rein true Inferred relationship Some 1
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) localisation d'une constatation (attribut) Digit structure true Inferred relationship Some 3
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) localisation d'une constatation (attribut) vaisseau lymphatique true Inferred relationship Some 2
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) morphologie associée (attribut) Lymphangiectasis (morphologic abnormality) true Inferred relationship Some 2
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) morphologie associée (attribut) Supernumerary structure true Inferred relationship Some 3
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) est un(e) (attribut) Congenital lymphangiectasia true Inferred relationship Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) est un(e) (attribut) Disorder of lymphatic vessel (disorder) false Inferred relationship Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) est un(e) (attribut) anomalie congénitale des reins true Inferred relationship Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) est un(e) (attribut) lésion de tissu mou false Inferred relationship Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) est un(e) (attribut) Mullerian remnant true Inferred relationship Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) est un(e) (attribut) Hereditary disorder of lymphatic system (disorder) true Inferred relationship Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) est un(e) (attribut) polydactylie true Inferred relationship Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) est un(e) (attribut) Hereditary nephropathy (disorder) true Inferred relationship Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) morphologie associée (attribut) Lymphangiectasis (morphologic abnormality) false Inferred relationship Some 4
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) localisation d'une constatation (attribut) vaisseau lymphatique false Inferred relationship Some 4
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) morphologie associée (attribut) Supernumerary structure false Inferred relationship Some 5
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) localisation d'une constatation (attribut) Digit structure false Inferred relationship Some 5
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 7
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 6
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) localisation d'une constatation (attribut) structure d'un rein false Inferred relationship Some 6
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) morphologie associée (attribut) Persistent embryonic structure false Inferred relationship Some 7
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) localisation d'une constatation (attribut) Structure of paramesonephric duct false Inferred relationship Some 7
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) morphologie associée (attribut) Persistent embryonic structure true Inferred relationship Some 4
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) localisation d'une constatation (attribut) Structure of paramesonephric duct true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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