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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


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 Lesion of soft tissue (disorder) 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

Reference Sets

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

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