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774208009: Sebaceous nevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented nevus syndrome (disorder)

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3728357012 SCALP syndrome en Synonym Active Case sensitive SNOMED CT core
3728362013 Sebaceous nevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented nevus syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3728363015 Sebaceous naevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented naevus syndrome en Synonym Active Case insensitive SNOMED CT core
3728364014 Sebaceous nevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented nevus syndrome en Synonym Active Case insensitive SNOMED CT core
3728359010 A rare skin disease characterised by the association of sebaceous naevus and aplasia cutis congenita (usually on the scalp and face) in conjunction with limbal dermoid of the eye, a giant congenital melanocytic naevus and variable central nervous system abnormalities including seizures, hydrocephalus, neurocutaneous melanosis, arachnoid cysts, and diffuse unilateral hemisphere enlargement. en Definition Active Case sensitive SNOMED CT core
3728361018 A rare skin disease characterized by the association of sebaceous nevus and aplasia cutis congenita (usually on the scalp and face) in conjunction with limbal dermoid of the eye, a giant congenital melanocytic nevus and variable central nervous system abnormalities including seizures, hydrocephalus, neurocutaneous melanosis, arachnoid cysts, and diffuse unilateral hemisphere enlargement. en Definition Active Case sensitive SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Sebaceous naevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented naevus syndrome Is a Aplasia cutis congenita true Inferred relationship Some
Sebaceous naevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented naevus syndrome Associated morphology Epidermal naevus true Inferred relationship Some 3
Sebaceous naevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented naevus syndrome Finding site Skin structure true Inferred relationship Some 3
Sebaceous naevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented naevus syndrome Occurrence Congenital true Inferred relationship Some 2
Sebaceous naevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented naevus syndrome Is a Congenital anomaly of central nervous system true Inferred relationship Some
Sebaceous naevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented naevus syndrome Is a Sebaceous naevus true Inferred relationship Some
Sebaceous naevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented naevus syndrome Occurrence Congenital true Inferred relationship Some 1
Sebaceous naevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented naevus syndrome Is a Congenital hamartoma of skin true Inferred relationship Some
Sebaceous naevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented naevus syndrome Associated morphology Congenital absence false Inferred relationship Some 2
Sebaceous naevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented naevus syndrome Finding site Structure of central nervous system true Inferred relationship Some 1
Sebaceous naevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented naevus syndrome Pathological process Pathological developmental process false Inferred relationship Some 3
Sebaceous naevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented naevus syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Sebaceous naevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented naevus syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Sebaceous naevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented naevus syndrome Occurrence Congenital true Inferred relationship Some 3
Sebaceous naevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented naevus syndrome Finding site Skin part true Inferred relationship Some 2
Sebaceous naevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented naevus syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Sebaceous naevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented naevus syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Sebaceous naevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented naevus syndrome Associated morphology Aplasia true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Neoplasm and/or hamartoma reference set

Problem/Diagnosis reference set

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