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766928004: Generalized basaloid follicular hamartoma syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3663195013 Generalized basaloid follicular hamartoma syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3663196014 Generalized basaloid follicular hamartoma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3663197017 Generalised basaloid follicular hamartoma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404700010 Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404701014 Generalised basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterised by multiple milium-like, comedone-like lesions and skin-coloured to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3663195013 Generalized basaloid follicular hamartoma syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3663196014 Generalized basaloid follicular hamartoma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3663197017 Generalised basaloid follicular hamartoma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3663198010 A rare genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillae and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3663199019 A rare genetic skin disease characterised by multiple milium-like, comedone-like lesions and skin-coloured to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillae and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404700010 Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404701014 Generalised basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterised by multiple milium-like, comedone-like lesions and skin-coloured to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3382461001000110 Syndrom der generalisierten basaloiden follikulären Hamartome de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
993271000172111 syndrome d'hamartome basaloïde folliculaire généralisé fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
993271000172111 syndrome d'hamartome basaloïde folliculaire généralisé fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3382461001000110 Syndrom der generalisierten basaloiden follikulären Hamartome de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Generalized basaloid follicular hamartoma syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Generalized basaloid follicular hamartoma syndrome (disorder) Finding site Pilosebaceous apparatus structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Generalized basaloid follicular hamartoma syndrome (disorder) Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Generalized basaloid follicular hamartoma syndrome (disorder) Associated morphology Hamartoma true Inferred relationship Existential restriction modifier (core metadata concept) 1
Generalized basaloid follicular hamartoma syndrome (disorder) Is a Basal cell nevus with comedones (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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