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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
5402284018 Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402285017 Haim-Munk syndrome (HMS) is characterised by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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 Only initial character case insensitive (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
5402284018 Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402285017 Haim-Munk syndrome (HMS) is characterised by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3450781001000110 Haim-Munk-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6305901000241114 syndrome de kératodermie palmoplantaire, périodontopathie et onychogrypose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6305911000241111 syndrome d'hyperkératose palmoplantaire, périodontopathie et onychogrypose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6305921000241116 syndrome de Haim-Munk fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6305901000241114 syndrome de kératodermie palmoplantaire, périodontopathie et onychogrypose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6305911000241111 syndrome d'hyperkératose palmoplantaire, périodontopathie et onychogrypose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6305921000241116 syndrome de Haim-Munk fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3450781001000110 Haim-Munk-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Haim Munk syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Haim Munk syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Haim Munk syndrome Is a Digestive system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Haim Munk syndrome Is a Hereditary disorder of the integument (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Haim Munk syndrome Is a Hereditary diffuse palmoplantar keratoderma true Inferred relationship Existential restriction modifier (core metadata concept)
Haim Munk syndrome Is a Congenital anomaly of tooth (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Haim Munk syndrome Has definitional manifestation Abnormal keratinization false Inferred relationship Existential restriction modifier (core metadata concept)
Haim Munk syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Haim Munk syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Haim Munk syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 6
Haim Munk syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Haim Munk syndrome Finding site Tooth structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Haim Munk syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
Haim Munk syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Haim Munk syndrome Finding site Tooth structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Haim Munk syndrome Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 5
Haim Munk syndrome Is a Congenital anomaly of skin (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Haim Munk syndrome Has interpretation Abnormal false Inferred relationship Existential restriction modifier (core metadata concept) 3
Haim Munk syndrome Interprets Keratinisation false Inferred relationship Existential restriction modifier (core metadata concept) 3
Haim Munk syndrome Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Haim Munk syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Haim Munk syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Haim Munk syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Haim Munk syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Haim Munk syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Haim Munk syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Haim Munk syndrome Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Haim Munk syndrome Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 2
Haim Munk syndrome Finding site Skin structure of sole of foot (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Haim Munk syndrome Finding site Skin structure of palmar area of hand false Inferred relationship Existential restriction modifier (core metadata concept) 5
Haim Munk syndrome Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 3
Haim Munk syndrome Finding site Entire skin of palmar area of hand true Inferred relationship Existential restriction modifier (core metadata concept) 3
Haim Munk syndrome Finding site Entire skin of sole of foot true Inferred relationship Existential restriction modifier (core metadata concept) 5
Haim Munk syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Haim Munk syndrome Is a Hereditary disorder of tooth true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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