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703827008: Cutaneous mastocytosis (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3009363013 Cutaneous mastocytosis (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3009470014 Cutaneous mastocytosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Cutaneous mastocytosis (morphologic abnormality) Is a Mastocytosis true Inferred relationship Some
Cutaneous mastocytosis (morphologic abnormality) Is a Hematopoietic neoplasm of uncertain behavior (morphologic abnormality) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Diffuse erythrodermic mastocytosis (disorder) Associated morphology False Cutaneous mastocytosis (morphologic abnormality) Inferred relationship Some 2
Familial mastocytosis (disorder) Associated morphology False Cutaneous mastocytosis (morphologic abnormality) Inferred relationship Some 2
Cutaneous mastocytosis (disorder) Associated morphology False Cutaneous mastocytosis (morphologic abnormality) Inferred relationship Some 2
Telangiectasia macularis eruptiva perstans Associated morphology False Cutaneous mastocytosis (morphologic abnormality) Inferred relationship Some 3
Diffuse cutaneous mastocytosis (morphologic abnormality) Is a True Cutaneous mastocytosis (morphologic abnormality) Inferred relationship Some
Urticaria pigmentosa Is a False Cutaneous mastocytosis (morphologic abnormality) Inferred relationship Some
Solitary mastocytoma of skin (morphologic abnormality) Is a False Cutaneous mastocytosis (morphologic abnormality) Inferred relationship Some
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 Cutaneous mastocytosis (morphologic abnormality) Inferred relationship Some 8
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 Cutaneous mastocytosis (morphologic abnormality) Inferred relationship Some 1
Telangiectasia macularis eruptiva perstans Associated morphology False Cutaneous mastocytosis (morphologic abnormality) Inferred relationship Some 2
Diffuse erythrodermic mastocytosis (disorder) Associated morphology True Cutaneous mastocytosis (morphologic abnormality) Inferred relationship Some 1
Cutaneous mastocytosis (disorder) Associated morphology True Cutaneous mastocytosis (morphologic abnormality) Inferred relationship Some 1
Familial mastocytosis (disorder) Associated morphology True Cutaneous mastocytosis (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 False Cutaneous mastocytosis (morphologic abnormality) Inferred relationship Some 6
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 Cutaneous mastocytosis (morphologic abnormality) Inferred relationship Some 7
Pseudoxanthomatous nodular cutaneous mastocytosis Associated morphology True Cutaneous mastocytosis (morphologic abnormality) Inferred relationship Some 1
Bullous cutaneous mastocytosis Associated morphology True Cutaneous mastocytosis (morphologic abnormality) Inferred relationship Some 1
Cutaneous mastocytosis, adult form (disorder) Associated morphology True Cutaneous mastocytosis (morphologic abnormality) Inferred relationship Some 1
Cutaneous mastocytosis, infantile form (disorder) Associated morphology True Cutaneous mastocytosis (morphologic abnormality) Inferred relationship Some 1
Mastocytoma Is a True Cutaneous mastocytosis (morphologic abnormality) Inferred relationship Some
Congenital cutaneous mastocytosis Associated morphology True Cutaneous mastocytosis (morphologic abnormality) Inferred relationship Some 2
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 Cutaneous mastocytosis (morphologic abnormality) Inferred relationship Some 2
Telangiectasia macularis eruptiva perstans Associated morphology True Cutaneous mastocytosis (morphologic abnormality) Inferred relationship Some 5

This concept is not in any reference sets

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