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722453009: Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3331859010 Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3331860017 Cutaneous mastocytosis, short stature, hearing loss syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3332202019 Hennekam Beemer syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Cutaneous mastocytosis, short stature, hearing loss syndrome Is a Microcephalus false Inferred relationship Existential restriction modifier
Cutaneous mastocytosis, short stature, hearing loss syndrome Is a Conductive hearing loss true Inferred relationship Existential restriction modifier
Cutaneous mastocytosis, short stature, hearing loss syndrome Is a Congenital anomaly of brain false Inferred relationship Existential restriction modifier
Cutaneous mastocytosis, short stature, hearing loss syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Cutaneous mastocytosis, short stature, hearing loss syndrome Is a Congenital hearing disorder false Inferred relationship Existential restriction modifier
Cutaneous mastocytosis, short stature, hearing loss syndrome Is a Chronic nervous system disorder false Inferred relationship Existential restriction modifier
Cutaneous mastocytosis, short stature, hearing loss syndrome Is a Chronic disease of ear false Inferred relationship Existential restriction modifier
Cutaneous mastocytosis, short stature, hearing loss syndrome Is a Short stature disorder true Inferred relationship Existential restriction modifier
Cutaneous mastocytosis, short stature, hearing loss syndrome Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier
Cutaneous mastocytosis, short stature, hearing loss syndrome Is a Hereditary disorder of the integument true Inferred relationship Existential restriction modifier
Cutaneous mastocytosis, short stature, hearing loss syndrome Is a Hereditary disorder of nervous system false Inferred relationship Existential restriction modifier
Cutaneous mastocytosis, short stature, hearing loss syndrome Is a Cutaneous mastocytosis true Inferred relationship Existential restriction modifier
Cutaneous mastocytosis, short stature, hearing loss syndrome Is a Hereditary white blood cell disorder true Inferred relationship Existential restriction modifier
Cutaneous mastocytosis, short stature, hearing loss syndrome Clinical course Chronic true Inferred relationship Existential restriction modifier 3
Cutaneous mastocytosis, short stature, hearing loss syndrome Finding site Ear structure true Inferred relationship Existential restriction modifier 4
Cutaneous mastocytosis, short stature, hearing loss syndrome Has definitional manifestation Immune system finding false Inferred relationship Existential restriction modifier
Cutaneous mastocytosis, short stature, hearing loss syndrome Interprets Hearing, function true Inferred relationship Existential restriction modifier 5
Cutaneous mastocytosis, short stature, hearing loss syndrome Interprets Functional observable false Inferred relationship Existential restriction modifier
Cutaneous mastocytosis, short stature, hearing loss syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 8
Cutaneous mastocytosis, short stature, hearing loss syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 9
Cutaneous mastocytosis, short stature, hearing loss syndrome Associated morphology Cutaneous mastocytosis false Inferred relationship Existential restriction modifier 8
Cutaneous mastocytosis, short stature, hearing loss syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier 8
Cutaneous mastocytosis, short stature, hearing loss syndrome Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier 9
Cutaneous mastocytosis, short stature, hearing loss syndrome Finding site Brain structure false Inferred relationship Existential restriction modifier 9
Cutaneous mastocytosis, short stature, hearing loss syndrome Is a Chronic brain syndrome false Inferred relationship Existential restriction modifier
Cutaneous mastocytosis, short stature, hearing loss syndrome Finding site Brain structure false Inferred relationship Existential restriction modifier 2
Cutaneous mastocytosis, short stature, hearing loss syndrome Pathological process Pathological developmental process false Inferred relationship Existential restriction modifier 1
Cutaneous mastocytosis, short stature, hearing loss syndrome Associated morphology Congenital smallness true Inferred relationship Existential restriction modifier 2
Cutaneous mastocytosis, short stature, hearing loss syndrome Associated morphology Cutaneous mastocytosis false Inferred relationship Existential restriction modifier 1
Cutaneous mastocytosis, short stature, hearing loss syndrome Is a Congenital anomaly of skin false Inferred relationship Existential restriction modifier
Cutaneous mastocytosis, short stature, hearing loss syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 1
Cutaneous mastocytosis, short stature, hearing loss syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Cutaneous mastocytosis, short stature, hearing loss syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier 1
Cutaneous mastocytosis, short stature, hearing loss syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Cutaneous mastocytosis, short stature, hearing loss syndrome Pathological process Abnormal immune process false Inferred relationship Existential restriction modifier
Cutaneous mastocytosis, short stature, hearing loss syndrome Associated morphology Cutaneous mastocytosis false Inferred relationship Existential restriction modifier 6
Cutaneous mastocytosis, short stature, hearing loss syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier 6
Cutaneous mastocytosis, short stature, hearing loss syndrome Pathological process Abnormal immune process false Inferred relationship Existential restriction modifier 6
Cutaneous mastocytosis, short stature, hearing loss syndrome Associated morphology Mast cell abnormality false Inferred relationship Existential restriction modifier 6
Cutaneous mastocytosis, short stature, hearing loss syndrome Finding site Mast cell false Inferred relationship Existential restriction modifier 6
Cutaneous mastocytosis, short stature, hearing loss syndrome Pathological process Abnormal immune process false Inferred relationship Existential restriction modifier 7
Cutaneous mastocytosis, short stature, hearing loss syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Cutaneous mastocytosis, short stature, hearing loss syndrome Interprets Height / growth measure true Inferred relationship Existential restriction modifier 8
Cutaneous mastocytosis, short stature, hearing loss syndrome Associated morphology Cutaneous mastocytosis true Inferred relationship Existential restriction modifier 7
Cutaneous mastocytosis, short stature, hearing loss syndrome Interprets Birth head circumference true Inferred relationship Existential restriction modifier 6
Cutaneous mastocytosis, short stature, hearing loss syndrome Associated morphology Mast cell abnormality true Inferred relationship Existential restriction modifier 1
Cutaneous mastocytosis, short stature, hearing loss syndrome Finding site Head structure true Inferred relationship Existential restriction modifier 2
Cutaneous mastocytosis, short stature, hearing loss syndrome Has interpretation Below reference range true Inferred relationship Existential restriction modifier 6
Cutaneous mastocytosis, short stature, hearing loss syndrome Is a Congenital microcephaly true Inferred relationship Existential restriction modifier
Cutaneous mastocytosis, short stature, hearing loss syndrome Pathological process Abnormal immune process true Inferred relationship Existential restriction modifier 1
Cutaneous mastocytosis, short stature, hearing loss syndrome Finding site Mast cell true Inferred relationship Existential restriction modifier 1
Cutaneous mastocytosis, short stature, hearing loss syndrome Finding site Skin structure true Inferred relationship Existential restriction modifier 7
Cutaneous mastocytosis, short stature, hearing loss syndrome Has interpretation Decreased true Inferred relationship Existential restriction modifier 5
Cutaneous mastocytosis, short stature, hearing loss syndrome Is a Decreased hearing true Inferred relationship Existential restriction modifier
Cutaneous mastocytosis, short stature, hearing loss syndrome Has interpretation Below reference range true Inferred relationship Existential restriction modifier 8
Cutaneous mastocytosis, short stature, hearing loss syndrome Is a Chronic deafness true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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