1953005: Congenital deficiency of pigment of skin (disorder)

SNOMED CT Concept\Clinical finding\...

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

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

\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\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 of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin

\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Hypopigmentation of skin\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\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\Hypopigmentation of skin\Congenital deficiency of pigment of skin
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\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 of skin\Skin lesion\Disorder of skin pigmentation\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 of skin\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\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 of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\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. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

4374015 Congenital deficiency of pigment of skin en Synonym Active Entire term case insensitive SNOMED CT core module
4375019 Congenital deficiency of pigment of skin, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
747753014 Congenital deficiency of pigment of skin (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

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	Existential restriction modifier
Congenital deficiency of pigment of skin	Is a	Skin lesion	false	Inferred relationship	Existential restriction modifier
Congenital deficiency of pigment of skin	Associated morphology	Congenital deficiency	false	Inferred relationship	Existential restriction modifier
Congenital deficiency of pigment of skin	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier	1
Congenital deficiency of pigment of skin	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Congenital deficiency of pigment of skin	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Congenital deficiency of pigment of skin	Is a	Congenital pigmentary anomaly of skin	false	Inferred relationship	Existential restriction modifier
Congenital deficiency of pigment of skin	Is a	Congenital anomaly of skin	false	Inferred relationship	Existential restriction modifier
Congenital deficiency of pigment of skin	Is a	Hypopigmentation of skin	true	Inferred relationship	Existential restriction modifier
Congenital deficiency of pigment of skin	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Congenital deficiency of pigment of skin	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier	1
Congenital deficiency of pigment of skin	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Congenital deficiency of pigment of skin	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier	2
Congenital deficiency of pigment of skin	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Congenital deficiency of pigment of skin	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Congenital deficiency of pigment of skin	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	1
Congenital deficiency of pigment of skin	Is a	Congenital pigmentary skin anomalies	true	Inferred relationship	Existential restriction modifier
Congenital deficiency of pigment of skin	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Congenital deficiency of pigment of skin	Associated morphology	Hypopigmentation	true	Inferred relationship	Existential restriction modifier	1

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

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	Active	Entire term case insensitive	SNOMED CT core module
4375019	Congenital deficiency of pigment of skin, NOS	en	Synonym	Inactive	Only initial character case insensitive	SNOMED CT core module
747753014	Congenital deficiency of pigment of skin (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module