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397017008: Mast cell abnormality (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1764935016 Mast cell abnormality (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1776752010 Mast cell abnormality en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
65481000077114 anomalie d'un mastocyte fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Mast cell abnormality (morphologic abnormality) Is a Morphologically abnormal structure false Inferred relationship Some
Mast cell abnormality (morphologic abnormality) Is a Lesion (morphologic abnormality) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Mast cell hyperplasia (morphologic abnormality) Is a True Mast cell abnormality (morphologic abnormality) Inferred relationship Some
Mastocytosis Is a False Mast cell abnormality (morphologic abnormality) Inferred relationship Some
Cutaneous mastocytosis, adult form (disorder) Associated morphology False Mast cell abnormality (morphologic abnormality) Inferred relationship Some 2
Urticaria pigmentosa, multiple nodules AND/OR plaques Associated morphology False Mast cell abnormality (morphologic abnormality) Inferred relationship Some 2
Non malignant mast cell disease Associated morphology True Mast cell abnormality (morphologic abnormality) Inferred relationship Some 1
Cutaneous mastocytosis, infantile form (disorder) Associated morphology False Mast cell abnormality (morphologic abnormality) Inferred relationship Some 2
urticaire pigmentaire Associated morphology False Mast cell abnormality (morphologic abnormality) Inferred relationship Some 2
Urticaria pigmentosa, maculopapular type Associated morphology False Mast cell abnormality (morphologic abnormality) Inferred relationship Some 2
Telangiectasia macularis eruptiva perstans Associated morphology False Mast cell abnormality (morphologic abnormality) Inferred relationship Some 2
Mast cell disorder (disorder) Associated morphology False Mast cell abnormality (morphologic abnormality) Inferred relationship Some 1
Cutaneous mastocytosis (disorder) Associated morphology False Mast cell abnormality (morphologic abnormality) Inferred relationship Some 1
Diffuse erythrodermic mastocytosis (disorder) Associated morphology False Mast cell abnormality (morphologic abnormality) Inferred relationship Some 1
Systemic mast cell disease (disorder) Associated morphology False Mast cell abnormality (morphologic abnormality) Inferred relationship Some 1
Bullous cutaneous mastocytosis Associated morphology False Mast cell abnormality (morphologic abnormality) Inferred relationship Some 2
Mastocytoma (disorder) Associated morphology False Mast cell abnormality (morphologic abnormality) Inferred relationship Some 1
Mast cell leukemia affecting skin (disorder) Associated morphology False Mast cell abnormality (morphologic abnormality) Inferred relationship Some 1
Familial mastocytosis (disorder) Associated morphology False Mast cell abnormality (morphologic abnormality) Inferred relationship Some 1
Mastocytoma (disorder) Associated morphology False Mast cell abnormality (morphologic abnormality) Inferred relationship Some 1
Diffuse erythrodermic mastocytosis (disorder) Associated morphology False Mast cell abnormality (morphologic abnormality) Inferred relationship Some 1
Familial mastocytosis (disorder) Associated morphology False Mast cell abnormality (morphologic abnormality) Inferred relationship Some 1
Mast cell leukemia affecting skin (disorder) Associated morphology False Mast cell abnormality (morphologic abnormality) Inferred relationship Some 1
Cutaneous mastocytosis (disorder) Associated morphology False Mast cell abnormality (morphologic abnormality) Inferred relationship Some 1
Telangiectasia macularis eruptiva perstans Associated morphology False Mast cell abnormality (morphologic abnormality) Inferred relationship Some 2
A rare, aggressive form of advanced systemic mastocytosis (advSM) characterized by massive infiltration of mast cells (MC) in different tissues and presence of extracutaneous organ dysfunction, but without evidence of mast cell leukemia or another hematologic neoplasm. Associated morphology False Mast cell abnormality (morphologic abnormality) Inferred relationship Some 2
Reactive mastocytosis Associated morphology True Mast cell abnormality (morphologic abnormality) Inferred relationship Some 3
Cutaneous mastocytosis, adult form (disorder) Associated morphology True Mast cell abnormality (morphologic abnormality) Inferred relationship Some 3
Bullous cutaneous mastocytosis Associated morphology True Mast cell abnormality (morphologic abnormality) Inferred relationship Some 3
Diffuse erythrodermic mastocytosis (disorder) Associated morphology True Mast cell abnormality (morphologic abnormality) Inferred relationship Some 3
Solitary cutaneous mastocytoma (disorder) Associated morphology True Mast cell abnormality (morphologic abnormality) Inferred relationship Some 3
Familial mastocytosis (disorder) Associated morphology True Mast cell abnormality (morphologic abnormality) Inferred relationship Some 3
Cutaneous mastocytosis (disorder) Associated morphology True Mast cell abnormality (morphologic abnormality) Inferred relationship Some 4
Indolent systemic mastocytosis Associated morphology False Mast cell abnormality (morphologic abnormality) Inferred relationship Some 3
Localized extracutaneous mastocytosis Associated morphology True Mast cell abnormality (morphologic abnormality) Inferred relationship Some 2
A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported. Associated morphology False Mast cell abnormality (morphologic abnormality) Inferred relationship Some 6
Cutaneous mastocytosis, infantile form (disorder) Associated morphology True Mast cell abnormality (morphologic abnormality) Inferred relationship Some 3
Telangiectasia macularis eruptiva perstans Associated morphology True Mast cell abnormality (morphologic abnormality) Inferred relationship Some 4
urticaire pigmentaire Associated morphology False Mast cell abnormality (morphologic abnormality) Inferred relationship Some 3
Mast cell gastritis (disorder) Associated morphology True Mast cell abnormality (morphologic abnormality) Inferred relationship Some 1
A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported. Associated morphology True Mast cell abnormality (morphologic abnormality) Inferred relationship Some 1
Bullous diffuse cutaneous mastocytosis Associated morphology True Mast cell abnormality (morphologic abnormality) Inferred relationship Some 4
Pseudoxanthomatous nodular cutaneous mastocytosis Associated morphology True Mast cell abnormality (morphologic abnormality) Inferred relationship Some 3
Congenital cutaneous mastocytosis Associated morphology True Mast cell abnormality (morphologic abnormality) Inferred relationship Some 1
A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported. Associated morphology True Mast cell abnormality (morphologic abnormality) Inferred relationship Some 1

This concept is not in any reference sets

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