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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
5402744014 A rare genetic disease characterized by the presence of Müllerian duct derivatives (rudimentary uterus, fallopian tubes, and atretic vagina) and other genital anomalies (cryptorchidism, micropenis) in male newborns, intestinal and pulmonary lymphangiectasia, protein-losing enteropathy, hepatomegaly, and renal anomalies. Postaxial polydactyly, facial dysmorphism (including broad nasal bridge, bulbous nasal tip, long and prominent upper lip with smooth philtrum, hypertrophic alveolar ridges, and mild retrognathia, among other features), and short limbs have also been described. The syndrome is fatal in infancy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402745010 A rare genetic disease characterised by the presence of Müllerian duct derivatives (rudimentary uterus, fallopian tubes, and atretic vagina) and other genital anomalies (cryptorchidism, micropenis) in male newborns, intestinal and pulmonary lymphangiectasia, protein-losing enteropathy, hepatomegaly, and renal anomalies. Postaxial polydactyly, facial dysmorphism (including broad nasal bridge, bulbous nasal tip, long and prominent upper lip with smooth philtrum, hypertrophic alveolar ridges, and mild retrognathia, among other features), and short limbs have also been described. The syndrome is fatal in infancy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
5402744014 A rare genetic disease characterized by the presence of Müllerian duct derivatives (rudimentary uterus, fallopian tubes, and atretic vagina) and other genital anomalies (cryptorchidism, micropenis) in male newborns, intestinal and pulmonary lymphangiectasia, protein-losing enteropathy, hepatomegaly, and renal anomalies. Postaxial polydactyly, facial dysmorphism (including broad nasal bridge, bulbous nasal tip, long and prominent upper lip with smooth philtrum, hypertrophic alveolar ridges, and mild retrognathia, among other features), and short limbs have also been described. The syndrome is fatal in infancy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402745010 A rare genetic disease characterised by the presence of Müllerian duct derivatives (rudimentary uterus, fallopian tubes, and atretic vagina) and other genital anomalies (cryptorchidism, micropenis) in male newborns, intestinal and pulmonary lymphangiectasia, protein-losing enteropathy, hepatomegaly, and renal anomalies. Postaxial polydactyly, facial dysmorphism (including broad nasal bridge, bulbous nasal tip, long and prominent upper lip with smooth philtrum, hypertrophic alveolar ridges, and mild retrognathia, among other features), and short limbs have also been described. The syndrome is fatal in infancy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3425531001000110 Müller-Gang-Derivate - Lymphangiektasie - Polydaktylie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6415731000241110 syndrome de persistance de dérivés müllériens, lymphangiectasies et polydactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6415741000241117 syndrome d'Urioste Martinez-Frias fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6415731000241110 syndrome de persistance de dérivés müllériens, lymphangiectasies et polydactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6415741000241117 syndrome d'Urioste Martinez-Frias fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3425531001000110 Müller-Gang-Derivate - Lymphangiektasie - Polydaktylie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Is a Disorder of lymphatic vessel (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Is a Congenital anomaly of the kidney true Inferred relationship Existential restriction modifier (core metadata concept)
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Is a Lesion of soft tissue (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Is a Mullerian remnant true Inferred relationship Existential restriction modifier (core metadata concept)
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Is a Herditary disorder of lymphatic system true Inferred relationship Existential restriction modifier (core metadata concept)
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Is a Polydactyly (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Is a Hereditary nephropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Associated morphology Lymphangiectasis (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Finding site Structure of lymphatic vessel false Inferred relationship Existential restriction modifier (core metadata concept) 4
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Associated morphology Supernumerary structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Finding site Digit structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 6
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Finding site Kidney structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Associated morphology Persistent embryonic structure (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 7
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Finding site Structure of paramesonephric duct false Inferred relationship Existential restriction modifier (core metadata concept) 7
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Associated morphology Persistent embryonic structure (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Finding site Structure of paramesonephric duct true Inferred relationship Existential restriction modifier (core metadata concept) 4
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Is a Lymphatic malformation false Inferred relationship Existential restriction modifier (core metadata concept)
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Finding site Kidney structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Finding site Digit structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Finding site Structure of lymphatic vessel true Inferred relationship Existential restriction modifier (core metadata concept) 2
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Associated morphology Lymphangiectasis (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Associated morphology Supernumerary structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Is a Congenital lymphangiectasia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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