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722452004: Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3332197014 Preaxial deficiency, postaxial polydactyly, hypospadias syndrome en Synonym Active Case insensitive SNOMED CT core
3332198016 Guttmacher syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Guttmacher syndrome Finding site Finger structure true Inferred relationship Some 1
Guttmacher syndrome Occurrence Congenital true Inferred relationship Some 2
Guttmacher syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
Guttmacher syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Guttmacher syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Guttmacher syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Guttmacher syndrome Associated morphology Supernumerary structure true Inferred relationship Some 1
Guttmacher syndrome Occurrence Congenital true Inferred relationship Some 1
Guttmacher syndrome Occurrence Congenital true Inferred relationship Some 3
Guttmacher syndrome Finding site Bone structure true Inferred relationship Some 2
Guttmacher syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 2
Guttmacher syndrome Associated morphology Abnormally short growth true Inferred relationship Some 3
Guttmacher syndrome Finding site Entire digit of hand true Inferred relationship Some 3
Guttmacher syndrome Is a Congenital deformity of toe false Inferred relationship Some
Guttmacher syndrome Associated morphology Dysplasia true Inferred relationship Some 2
Guttmacher syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Guttmacher syndrome Is a Brachydactyly of toes true Inferred relationship Some
Guttmacher syndrome Is a Congenital anomaly of toe false Inferred relationship Some
Guttmacher syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Guttmacher syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Guttmacher syndrome Is a Polydactyly of fingers true Inferred relationship Some
Guttmacher syndrome Is a Dysostosis true Inferred relationship Some
Guttmacher syndrome Is a Congenital undergrowth of partial lower limb false Inferred relationship Some
Guttmacher syndrome Is a Brachydactyly of hand true Inferred relationship Some
Guttmacher syndrome Is a Inherited disorder of connective tissue false Inferred relationship Some
Guttmacher syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Guttmacher syndrome Occurrence Congenital true Inferred relationship Some 4
Guttmacher syndrome Occurrence Congenital false Inferred relationship Some 5
Guttmacher syndrome Occurrence Congenital false Inferred relationship Some 6
Guttmacher syndrome Occurrence Congenital false Inferred relationship Some 7
Guttmacher syndrome Associated morphology Abnormally short growth false Inferred relationship Some 7
Guttmacher syndrome Associated morphology Supernumerary structure false Inferred relationship Some 6
Guttmacher syndrome Finding site Finger structure false Inferred relationship Some 6
Guttmacher syndrome Associated morphology Abnormally short growth true Inferred relationship Some 4
Guttmacher syndrome Finding site Entire digit of hand false Inferred relationship Some 7
Guttmacher syndrome Finding site Entire toe true Inferred relationship Some 4
Guttmacher syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 5
Guttmacher syndrome Finding site Bone structure false Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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