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721970009: Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder)


Status: current, Primitive. 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 Initial character case insensitive SNOMED CT core
3330028019 Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome en Synonym Active Initial character case insensitive 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 Case sensitive 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 Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Is a Lymphatic malformation false Inferred relationship Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Occurrence Congenital true Inferred relationship Some 1
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Occurrence Congenital true Inferred relationship Some 2
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Finding site Kidney structure true Inferred relationship Some 1
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Occurrence Congenital true Inferred relationship Some 3
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Finding site Digit structure true Inferred relationship Some 3
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Finding site Structure of lymphatic vessel true Inferred relationship Some 2
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Associated morphology Lymphangiectasis true Inferred relationship Some 2
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Associated morphology Supernumerary structure true Inferred relationship Some 3
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Is a Congenital lymphangiectasia true Inferred relationship Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Is a Disorder of lymphatic vessel false Inferred relationship Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Is a Congenital anomaly of the kidney true Inferred relationship Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Is a Soft tissue lesion false Inferred relationship Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Is a Mullerian remnant true Inferred relationship Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Is a Hereditary disorder of lymphatic system true Inferred relationship Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Is a Polydactyly true Inferred relationship Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Is a Hereditary nephropathy true Inferred relationship Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Associated morphology Lymphangiectasis false Inferred relationship Some 4
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Occurrence Congenital true Inferred relationship Some 4
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Finding site Structure of lymphatic vessel false Inferred relationship Some 4
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Associated morphology Supernumerary structure false Inferred relationship Some 5
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Occurrence Congenital false Inferred relationship Some 5
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Finding site Digit structure false Inferred relationship Some 5
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Occurrence Congenital false Inferred relationship Some 6
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Occurrence Congenital false Inferred relationship Some 7
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Associated morphology Developmental abnormality false Inferred relationship Some 6
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Finding site Kidney structure false Inferred relationship Some 6
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Associated morphology Persistent embryonic structure false Inferred relationship Some 7
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Finding site Structure of paramesonephric duct false Inferred relationship Some 7
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Associated morphology Persistent embryonic structure true Inferred relationship Some 4
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Finding site Structure of paramesonephric duct true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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