1953005: Congenital deficiency of pigment of skin (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin

\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin

\Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4374015 Congenital deficiency of pigment of skin en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

747753014 Congenital deficiency of pigment of skin (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2024221000005112 Kongenit manglende hudpigment da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) dansk modul

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital deficiency of pigment of skin	Is a	Congenital anomaly of skin	false	Inferred relationship	Some
Congenital deficiency of pigment of skin	Is a	Skin lesion	false	Inferred relationship	Some
Congenital deficiency of pigment of skin	Associated morphology	kongenit mangel	false	Inferred relationship	Some
Congenital deficiency of pigment of skin	Associated morphology	Kongenit hypopigmentering	false	Inferred relationship	Some	1
Congenital deficiency of pigment of skin	Occurrence	Congenital	false	Inferred relationship	Some
Congenital deficiency of pigment of skin	Finding site	Skin structure	false	Inferred relationship	Some	1
Congenital deficiency of pigment of skin	Is a	Congenital pigmentary anomaly of skin	false	Inferred relationship	Some
Congenital deficiency of pigment of skin	Is a	Congenital anomaly of skin	false	Inferred relationship	Some
Congenital deficiency of pigment of skin	Is a	Skin hypopigmented	true	Inferred relationship	Some
Congenital deficiency of pigment of skin	Finding site	Skin structure	false	Inferred relationship	Some	1
Congenital deficiency of pigment of skin	Associated morphology	Kongenit hypopigmentering	false	Inferred relationship	Some	1
Congenital deficiency of pigment of skin	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital deficiency of pigment of skin	Associated morphology	Kongenit hypopigmentering	false	Inferred relationship	Some	2
Congenital deficiency of pigment of skin	Finding site	Skin structure	false	Inferred relationship	Some	2
Congenital deficiency of pigment of skin	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital deficiency of pigment of skin	Finding site	Skin structure	true	Inferred relationship	Some	1
Congenital deficiency of pigment of skin	Is a	Congenital pigmentary skin anomalies	true	Inferred relationship	Some
Congenital deficiency of pigment of skin	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital deficiency of pigment of skin	Associated morphology	Hypopigmentation	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Albinism	Is a	False	Congenital deficiency of pigment of skin	Inferred relationship	Some
Congenital oculocutaneous hypopigmentation	Is a	True	Congenital deficiency of pigment of skin	Inferred relationship	Some
Hypopigmentation-immunodeficiency disease	Is a	False	Congenital deficiency of pigment of skin	Inferred relationship	Some
Albinoidisme	Is a	False	Congenital deficiency of pigment of skin	Inferred relationship	Some
Oculocutaneous albinism	Is a	False	Congenital deficiency of pigment of skin	Inferred relationship	Some
Waardenburg syndrome type 3 (disorder)	Is a	False	Congenital deficiency of pigment of skin	Inferred relationship	Some
Oculocerebral hypopigmentation syndrome of Preus type (disorder)	Is a	True	Congenital deficiency of pigment of skin	Inferred relationship	Some
Piebaldism (disorder)	Is a	True	Congenital deficiency of pigment of skin	Inferred relationship	Some
Deaf blind hypopigmentation syndrome Yemenite type (disorder)	Is a	True	Congenital deficiency of pigment of skin	Inferred relationship	Some
Albinism with deafness syndrome (disorder)	Is a	False	Congenital deficiency of pigment of skin	Inferred relationship	Some
Deafness, vitiligo, achalasia syndrome	Is a	True	Congenital deficiency of pigment of skin	Inferred relationship	Some
Waardenburg syndrome	Is a	True	Congenital deficiency of pigment of skin	Inferred relationship	Some
Piebald trait with neurologic defects syndrome	Is a	True	Congenital deficiency of pigment of skin	Inferred relationship	Some
Phylloid hypomelanosis (disorder)	Is a	True	Congenital deficiency of pigment of skin	Inferred relationship	Some
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies	Is a	True	Congenital deficiency of pigment of skin	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4374015	Congenital deficiency of pigment of skin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
747753014	Congenital deficiency of pigment of skin (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2024221000005112	Kongenit manglende hudpigment	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	dansk modul