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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
14463281000172119 syndrome de persistance de dérivés müllériens, lymphangiectasies et polydactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
14463291000172116 syndrome d'Urioste Martinez-Frias fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
4903961000172118 syndroom van Mülleriaanse derivaten, lymfangiëctasie en polydactylie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) Is a Disorder of lymphatic vessel (disorder) false Inferred relationship Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) Is a Congenital anomaly of the kidney true Inferred relationship Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) Is a Soft tissue lesion false Inferred relationship Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) Is a Mullerian remnant true Inferred relationship Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) Is a Hereditary disorder of lymphatic system (disorder) true Inferred relationship Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) Is a Polydactyly (disorder) true Inferred relationship Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) Is a Hereditary nephropathy (disorder) true Inferred relationship Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) Associated morphology Lymphangiectasis false Inferred relationship Some 4
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) Finding site Structure of lymphatic vessel false Inferred relationship Some 4
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) Associated morphology Supernumerary structure false Inferred relationship Some 5
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) Finding site Digit structure false Inferred relationship Some 5
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 6
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) Finding site Kidney structure false Inferred relationship Some 6
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) Associated morphology Persistent embryonic structure false Inferred relationship Some 7
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) Finding site Structure of paramesonephric duct false Inferred relationship Some 7
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) Associated morphology Persistent embryonic structure true Inferred relationship Some 4
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) Finding site Structure of paramesonephric duct true Inferred relationship Some 4
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) Is a Lymphatic malformation false Inferred relationship Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) Occurrence Congenital 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) Finding site Kidney structure 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) Occurrence Congenital 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) Finding site Digit structure true Inferred relationship Some 3
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) Finding site Structure of lymphatic vessel true Inferred relationship Some 2
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) Associated morphology Lymphangiectasis true Inferred relationship Some 2
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) Associated morphology Supernumerary structure true Inferred relationship Some 3
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) Is a Congenital lymphangiectasia true Inferred relationship Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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