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719973009: Haim Munk 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
3318659013 Haim Munk syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318660015 Haim Munk syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318661016 Keratosis palmoplantaris with periodontopathia and onychogryposis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3318662011 A rare syndrome with characteristics of palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis. The syndrome presents with severe and extensive skin manifestations. Severe, early-onset progressive periodontitis that affects both the deciduous and permanent dentitions and presents with gingival inflammation and alveolar bone destruction is a hallmark of the disease. Onychogryposis, arachnodactyly, acroosteolysis and pes planus are additional features that help to distinguish from other forms of palmoplantar hyperkeratosis. The syndrome is caused by germline mutations in the lysosomal protease cathepsin C (CTSC) gene mapped to chromosome 11q14.1-q14.3. It is transmitted as an autosomal recessive trait. 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
Haim Munk syndrome (disorder) localisation d'une constatation (attribut) structure de la peau true Inferred relationship Some 1
Haim Munk syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Haim Munk syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Haim Munk syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Haim Munk syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Haim Munk syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Haim Munk syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 4
Haim Munk syndrome (disorder) localisation d'une constatation (attribut) structure de la peau true Inferred relationship Some 2
Haim Munk syndrome (disorder) morphologie associée (attribut) Hyperkeratosis true Inferred relationship Some 2
Haim Munk syndrome (disorder) localisation d'une constatation (attribut) Skin structure of sole of foot false Inferred relationship Some 3
Haim Munk syndrome (disorder) localisation d'une constatation (attribut) peau de la région palmaire de la main (structure corporelle) false Inferred relationship Some 5
Haim Munk syndrome (disorder) morphologie associée (attribut) Hyperkeratosis true Inferred relationship Some 3
Haim Munk syndrome (disorder) localisation d'une constatation (attribut) Entire skin of palmar area of hand true Inferred relationship Some 3
Haim Munk syndrome (disorder) localisation d'une constatation (attribut) Entire skin of sole of foot true Inferred relationship Some 5
Haim Munk syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Haim Munk syndrome (disorder) est un(e) (attribut) Hereditary disorder of tooth true Inferred relationship Some
Haim Munk syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Haim Munk syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Haim Munk syndrome (disorder) est un(e) (attribut) Digestive system hereditary disorder false Inferred relationship Some
Haim Munk syndrome (disorder) est un(e) (attribut) Hereditary disorder of the integument false Inferred relationship Some
Haim Munk syndrome (disorder) est un(e) (attribut) Hereditary diffuse palmoplantar keratoderma (disorder) true Inferred relationship Some
Haim Munk syndrome (disorder) est un(e) (attribut) Congenital anomaly of tooth (disorder) true Inferred relationship Some
Haim Munk syndrome (disorder) est défini par la manifestation de (attribut) Abnormal keratinisation false Inferred relationship Some
Haim Munk syndrome (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 4
Haim Munk syndrome (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 5
Haim Munk syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 6
Haim Munk syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Haim Munk syndrome (disorder) localisation d'une constatation (attribut) dent (structure corporelle) false Inferred relationship Some 6
Haim Munk syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 4
Haim Munk syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Haim Munk syndrome (disorder) localisation d'une constatation (attribut) dent (structure corporelle) true Inferred relationship Some 4
Haim Munk syndrome (disorder) morphologie associée (attribut) Hyperkeratosis true Inferred relationship Some 5
Haim Munk syndrome (disorder) est un(e) (attribut) Congenital anomaly of skin true Inferred relationship Some
Haim Munk syndrome (disorder) a pour interprétation (attribut) anormal false Inferred relationship Some 3
Haim Munk syndrome (disorder) interprète (attribut) Keratinization, function (observable entity) false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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