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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
12762901000172111 syndrome de kératodermie palmoplantaire, périodontopathie et onychogrypose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
12762911000172114 syndrome d'hyperkératose palmoplantaire, périodontopathie et onychogrypose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
12762921000172116 syndrome de Haim-Munk fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
4810241000172114 syndroom van hyperkeratose van handpalm of voetzool, periodontopathie en onychogrypose nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4810251000172111 syndroom van keratosis palmoplantaris, periodontopathie en onychogrypose nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4810261000172113 syndroom van Haim-Munk nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Haim Munk syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Haim Munk syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Haim Munk syndrome (disorder) Is a Digestive system hereditary disorder (disorder) false Inferred relationship Some
Haim Munk syndrome (disorder) Is a Hereditary disorder of the integument false Inferred relationship Some
Haim Munk syndrome (disorder) Is a Hereditary diffuse palmoplantar keratoderma (disorder) true Inferred relationship Some
Haim Munk syndrome (disorder) Is a Congenital anomaly of tooth (disorder) true Inferred relationship Some
Haim Munk syndrome (disorder) Has definitional manifestation Abnormal keratinization false Inferred relationship Some
Haim Munk syndrome (disorder) Finding site Skin structure false Inferred relationship Some 4
Haim Munk syndrome (disorder) Finding site Skin structure false Inferred relationship Some 5
Haim Munk syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 6
Haim Munk syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Haim Munk syndrome (disorder) Finding site Tooth structure false Inferred relationship Some 6
Haim Munk syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 4
Haim Munk syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Haim Munk syndrome (disorder) Finding site Tooth structure true Inferred relationship Some 4
Haim Munk syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Some 5
Haim Munk syndrome (disorder) Is a Congenital anomaly of skin true Inferred relationship Some
Haim Munk syndrome (disorder) Has interpretation Abnormal false Inferred relationship Some 3
Haim Munk syndrome (disorder) Interprets Keratinization false Inferred relationship Some 3
Haim Munk syndrome (disorder) Finding site Skin structure true Inferred relationship Some 1
Haim Munk syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Haim Munk syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) 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) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 4
Haim Munk syndrome (disorder) Finding site Skin structure true Inferred relationship Some 2
Haim Munk syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Some 2
Haim Munk syndrome (disorder) Finding site Skin structure of sole of foot (body structure) false Inferred relationship Some 3
Haim Munk syndrome (disorder) Finding site Skin structure of palmar area of hand false Inferred relationship Some 5
Haim Munk syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Some 3
Haim Munk syndrome (disorder) Finding site Entire skin of palmar area of hand true Inferred relationship Some 3
Haim Munk syndrome (disorder) Finding site Entire skin of sole of foot true Inferred relationship Some 5
Haim Munk syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Haim Munk syndrome (disorder) Is a Hereditary disorder of tooth true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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