205564003: Congenital pigmentary skin anomalies (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 (disorder)\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital pigmentary skin anomalies
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital pigmentary skin anomalies
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies
\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 (disorder)\Congenital pigmentary skin anomalies
\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\Congenital pigmentary skin anomalies

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

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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital pigmentary skin anomalies	Is a	Congenital anomaly of tongue (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital pigmentary skin anomalies	Is a	Congenital anomaly of integument	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital pigmentary skin anomalies	Is a	Congenital heart disease (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital pigmentary skin anomalies	Finding site	Structure of skin region (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital pigmentary skin anomalies	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital pigmentary skin anomalies	Finding site	Jaw region structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital pigmentary skin anomalies	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital pigmentary skin anomalies	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital pigmentary skin anomalies	Finding site	Upper gastrointestinal tract structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital pigmentary skin anomalies	Finding site	Heart structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital pigmentary skin anomalies	Finding site	Tongue structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital pigmentary skin anomalies	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital pigmentary skin anomalies	Finding site	Cardiovascular system subdivision	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital pigmentary skin anomalies	Is a	Congenital anomaly of skin (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital pigmentary skin anomalies	Is a	Site-specific disorder of skin	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital pigmentary skin anomalies	Is a	Disorder of skin pigmentation	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital pigmentary skin anomalies	Associated morphology	Pigment alteration	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital pigmentary skin anomalies	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital pigmentary skin anomalies	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital pigmentary skin anomalies	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital pigmentary skin anomalies	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital pigmentary skin anomalies	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital pigmentary skin anomalies	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital pigmentary skin anomalies	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital pigmentary skin anomalies	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital pigmentary skin anomalies	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital pigmentary skin anomalies	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital pigmentary skin anomalies	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital pigmentary skin anomalies	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital pigmentary skin anomalies	Associated morphology	Pigment alteration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital pigmentary skin anomalies	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital pigmentary skin anomalies	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital pigmentary skin anomaly NOS	Is a	False	Congenital pigmentary skin anomalies	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital deficiency of pigment of skin	Is a	True	Congenital pigmentary skin anomalies	Inferred relationship	Existential restriction modifier (core metadata concept)
Terminal osseous dysplasia and pigmentary defect syndrome (disorder)	Is a	False	Congenital pigmentary skin anomalies	Inferred relationship	Existential restriction modifier (core metadata concept)
Neuroectodermal melanolysosomal disease	Is a	True	Congenital pigmentary skin anomalies	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome	Is a	True	Congenital pigmentary skin anomalies	Inferred relationship	Existential restriction modifier (core metadata concept)
Carney complex (disorder)	Is a	False	Congenital pigmentary skin anomalies	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial progressive hyper and hypopigmentation	Is a	True	Congenital pigmentary skin anomalies	Inferred relationship	Existential restriction modifier (core metadata concept)
Carney complex, trismus, pseudocamptodactyly syndrome (disorder)	Is a	True	Congenital pigmentary skin anomalies	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary benign acanthosis nigricans (disorder)	Is a	False	Congenital pigmentary skin anomalies	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary benign acanthosis nigricans with insulin resistance	Is a	False	Congenital pigmentary skin anomalies	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypotrichosis with keratosis pilaris and lentiginosis	Is a	False	Congenital pigmentary skin anomalies	Inferred relationship	Existential restriction modifier (core metadata concept)
Peutz-Jeghers syndrome	Is a	False	Congenital pigmentary skin anomalies	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa.	Is a	True	Congenital pigmentary skin anomalies	Inferred relationship	Existential restriction modifier (core metadata concept)
Centrofacial lentiginosis syndrome	Is a	False	Congenital pigmentary skin anomalies	Inferred relationship	Existential restriction modifier (core metadata concept)
Inherited cutaneous hyperpigmentation	Is a	True	Congenital pigmentary skin anomalies	Inferred relationship	Existential restriction modifier (core metadata concept)
Pseudoleprechaunism syndrome Patterson type (disorder)	Is a	True	Congenital pigmentary skin anomalies	Inferred relationship	Existential restriction modifier (core metadata concept)
Neurocutaneous melanosis sequence	Is a	False	Congenital pigmentary skin anomalies	Inferred relationship	Existential restriction modifier (core metadata concept)
McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP).	Is a	True	Congenital pigmentary skin anomalies	Inferred relationship	Existential restriction modifier (core metadata concept)
Birthmark	Is a	True	Congenital pigmentary skin anomalies	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare association syndrome, reported in several members of two families to date, characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities).	Is a	False	Congenital pigmentary skin anomalies	Inferred relationship	Existential restriction modifier (core metadata concept)
Dermal melanocytic hamartoma (disorder)	Is a	True	Congenital pigmentary skin anomalies	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets

Description inactivation indicator reference set

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
315243010	Congenital pigmentary skin anomalies	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
590950015	Congenital pigmentary skin anomalies (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2475672012	Congenital pigmentary anomaly of skin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
315243010	Congenital pigmentary skin anomalies	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
315243010	Congenital pigmentary skin anomalies	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
590950015	Congenital pigmentary skin anomalies (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
590950015	Congenital pigmentary skin anomalies (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2475672012	Congenital pigmentary anomaly of skin	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2475672012	Congenital pigmentary anomaly of skin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
425841000274119	Angeborene Pigmentstörung	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
111761000172114	anomalies congénitales de pigmentation de la peau	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
111761000172114	anomalies congénitales de pigmentation de la peau	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
425841000274119	Angeborene Pigmentstörung	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module