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1208985003: Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Mar 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
5013853012 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies en Synonym Active Entire term case insensitive SNOMED CT core module
5013854018 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
5013855017 RHOA (ras homolog family member A) related mosaic ectodermal dysplasia en Synonym Active Entire term case sensitive SNOMED CT core module
5013856016 RHOA-related mosaic ectodermal dysplasia 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
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Is a Congenital deficiency of pigment of skin true Inferred relationship Existential restriction modifier
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Existential restriction modifier
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Is a Ectodermal dysplasia with hair-tooth defects true Inferred relationship Existential restriction modifier
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Is a Congenital hypotrichia true Inferred relationship Existential restriction modifier
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Is a Genetic disease false Inferred relationship Existential restriction modifier
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Finding site Ectoderm structure true Inferred relationship Existential restriction modifier 1
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Associated morphology Dysplasia true Inferred relationship Existential restriction modifier 1
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Finding site Tooth structure true Inferred relationship Existential restriction modifier 2
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 2
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Finding site Face structure true Inferred relationship Existential restriction modifier 3
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 3
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 3
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Occurrence Congenital true Inferred relationship Existential restriction modifier 4
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Finding site Hair structure true Inferred relationship Existential restriction modifier 4
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier 4
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 4
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Occurrence Congenital true Inferred relationship Existential restriction modifier 5
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Finding site Skin structure true Inferred relationship Existential restriction modifier 5
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Associated morphology Hypopigmentation true Inferred relationship Existential restriction modifier 5
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 5
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Occurrence Congenital true Inferred relationship Existential restriction modifier 6
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Finding site Limb structure true Inferred relationship Existential restriction modifier 6
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 6
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 6
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Is a Genetic disorder of skin pigmentation 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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