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718679004: Mammary digital nail 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
3313023017 Mammary digital nail syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313172010 Mammary digital nail syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313173017 MDN (mammary digital nail) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3313174011 Onycho-digito-mammary syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313175012 A syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3313176013 A syndromic limb malformation characterised by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalisation of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females. 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
Mammary digital nail syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Mammary digital nail syndrome (disorder) localisation d'une constatation (attribut) Little finger structure true Inferred relationship Some 2
Mammary digital nail syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Mammary digital nail syndrome (disorder) localisation d'une constatation (attribut) Structure of distal phalanx of foot (body structure) true Inferred relationship Some 1
Mammary digital nail syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Mammary digital nail syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Mammary digital nail syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 3
Mammary digital nail syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Mammary digital nail syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Mammary digital nail syndrome (disorder) morphologie associée (attribut) Abnormally short growth true Inferred relationship Some 2
Mammary digital nail syndrome (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) true Inferred relationship Some 1
Mammary digital nail syndrome (disorder) est un(e) (attribut) Finding of bone of foot true Inferred relationship Some
Mammary digital nail syndrome (disorder) est un(e) (attribut) constatation à propos d'une structure musculosquelettique de l'orteil true Inferred relationship Some
Mammary digital nail syndrome (disorder) localisation d'une constatation (attribut) Nail unit structure true Inferred relationship Some 3
Mammary digital nail syndrome (disorder) est un(e) (attribut) Genetic disorder of nail (disorder) true Inferred relationship Some
Mammary digital nail syndrome (disorder) est un(e) (attribut) déformation d'une main false Inferred relationship Some
Mammary digital nail syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Mammary digital nail syndrome (disorder) est un(e) (attribut) Congenital deformity of hand (disorder) true Inferred relationship Some
Mammary digital nail syndrome (disorder) est un(e) (attribut) Congenital anomaly of skeletal bone true Inferred relationship Some
Mammary digital nail syndrome (disorder) est un(e) (attribut) Congenital anomaly of toe true Inferred relationship Some
Mammary digital nail syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Mammary digital nail syndrome (disorder) est un(e) (attribut) Congenital anomaly of finger true Inferred relationship Some
Mammary digital nail syndrome (disorder) est un(e) (attribut) anomalie congénitale de l'ongle (trouble) true Inferred relationship Some
Mammary digital nail syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Mammary digital nail syndrome (disorder) est un(e) (attribut) Pubertal breast hypertrophy false Inferred relationship Some
Mammary digital nail syndrome (disorder) est un(e) (attribut) Hypoplasia of lower limb true Inferred relationship Some
Mammary digital nail syndrome (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Mammary digital nail syndrome (disorder) est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
Mammary digital nail syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Mammary digital nail syndrome (disorder) est un(e) (attribut) Longitudinal deficiency of part of upper limb (disorder) true Inferred relationship Some
Mammary digital nail syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Mammary digital nail syndrome (disorder) morphologie associée (attribut) Congenital hypoplasia false Inferred relationship Some 6
Mammary digital nail syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Mammary digital nail syndrome (disorder) localisation d'une constatation (attribut) Structure of distal phalanx of foot (body structure) false Inferred relationship Some 6
Mammary digital nail syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 5
Mammary digital nail syndrome (disorder) localisation d'une constatation (attribut) Nail structure false Inferred relationship Some 5
Mammary digital nail syndrome (disorder) morphologie associée (attribut) hypertrophie false Inferred relationship Some 4
Mammary digital nail syndrome (disorder) localisation d'une constatation (attribut) Entire breast false Inferred relationship Some 4
Mammary digital nail syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 7
Mammary digital nail syndrome (disorder) morphologie associée (attribut) Abnormally short growth false Inferred relationship Some 7
Mammary digital nail syndrome (disorder) localisation d'une constatation (attribut) Little finger structure false Inferred relationship Some 7
Mammary digital nail syndrome (disorder) est un(e) (attribut) brachydactylie true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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