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722452004: Preaxial deficiency, postaxial polydactyly, hypospadias 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
3332194019 Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3332197014 Preaxial deficiency, postaxial polydactyly, hypospadias syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3332198016 Guttmacher syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3332199012 An extremely rare syndrome with characteristics of hypoplastic thumbs and halluces, fifth finger brachydactyly, postaxial polydactyly of the hands, short or uniphalangeal second toes with absent nails and hypospadias. It has been described in a father and his son and daughter. The affected patients have normal mental development. Except for postaxial polydactyly of the hands and uniphalangeal second toes with absent nails, features are in common with hand-foot-genital syndrome caused by mutations in the HOXA13 gene. In all three affected individuals, two different sequence alterations were identified in HOXA13 gene: a de novo missense mutation and a deletion in the promoter region of the gene, inherited from an unaffected parent, which may contribute to the phenotype in the affected individuals. The condition is inherited in an autosomal dominant manner. 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
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Is a Congenital anomaly of toe false Inferred relationship Some
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Is a Polydactyly of fingers true Inferred relationship Some
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Is a Dysostosis true Inferred relationship Some
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Is a Congenital undergrowth of partial lower limb false Inferred relationship Some
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Is a Brachydactyly of hand true Inferred relationship Some
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Associated morphology Abnormally short growth false Inferred relationship Some 7
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Associated morphology Supernumerary structure false Inferred relationship Some 6
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Finding site Finger structure false Inferred relationship Some 6
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Associated morphology Abnormally short growth true Inferred relationship Some 4
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Finding site Entire digit of hand false Inferred relationship Some 7
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Finding site Entire toe (body structure) true Inferred relationship Some 4
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 5
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Finding site Bone structure false Inferred relationship Some 5
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Finding site Finger structure true Inferred relationship Some 1
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Associated morphology Supernumerary structure true Inferred relationship Some 1
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Finding site Bone structure true Inferred relationship Some 2
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 2
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Associated morphology Abnormally short growth true Inferred relationship Some 3
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Finding site Entire digit of hand true Inferred relationship Some 3
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Is a Congenital deformity of toe (disorder) false Inferred relationship Some
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 2
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Is a Brachydactyly of toes true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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