771262009: pseudoleprechaunismesyndroom Patterson-type (aandoening)

• 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\Pseudoleprechaunism syndrome Patterson type (disorder)
• \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)\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Skin deposits\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Viscus structure finding (finding)\Abdominal organ finding\Disorder of adrenal gland\Adrenal hyperfunction\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Adrenal hyperfunction\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Adrenal hyperfunction\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Adrenal hyperfunction\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Adrenal hyperfunction\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Pseudoleprechaunism syndrome Patterson type (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Skin deposits\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Pseudoleprechaunism syndrome Patterson type (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Pseudoleprechaunism syndrome Patterson type (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Pseudoleprechaunism syndrome Patterson type (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Pseudoleprechaunism syndrome Patterson type (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Skin deposits\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type (disorder)
• \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\Pseudoleprechaunism syndrome Patterson type (disorder)
• \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\Pseudoleprechaunism syndrome Patterson type (disorder)
• \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)\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Functional finding\Increased hormone production\Adrenal hyperfunction\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Endocrine finding\Increased hormone production\Adrenal hyperfunction\Pseudoleprechaunism syndrome Patterson type (disorder)
• \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\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Skin deposits\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type (disorder)
• \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\Pseudoleprechaunism syndrome Patterson type (disorder)
• \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\Pseudoleprechaunism syndrome Patterson type (disorder)
• \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)\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Skin deposits\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type (disorder)
• \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\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Skin deposits\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Adrenal hyperfunction\Pseudoleprechaunism syndrome Patterson type (disorder)
• \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\Pseudoleprechaunism syndrome Patterson type (disorder)
• \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)\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type (disorder)
• \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\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Skin deposits\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type (disorder)
• \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\Pseudoleprechaunism syndrome Patterson type (disorder)
• \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\Pseudoleprechaunism syndrome Patterson type (disorder)
• \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)\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Adrenal hyperfunction\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Disease\Disorder of soft tissue\Soft tissue lesion\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Disease\Disorder of soft tissue\Soft tissue lesion\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Skin deposits\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type (disorder)
• \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\Pseudoleprechaunism syndrome Patterson type (disorder)
• \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\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Pseudoleprechaunism syndrome Patterson type (disorder)
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Pseudoleprechaunism syndrome Patterson type (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3705333018	Patterson syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3705334012	Pseudoleprechaunism syndrome Patterson type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3705335013	Pseudoleprechaunism syndrome Patterson type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3705336014	Patterson pseudoleprechaunism syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6720531000146113	syndroom van Patterson	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6720541000146117	Patterson-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8533551000146118	syndroom van Patterson-David	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8734521000146111	Patterson-pseudoleprechaunisme	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12689921000146112	pseudoleprechaunismesyndroom Patterson-type (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12744201000146111	pseudoleprechaunismesyndroom Patterson-type	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3705337017	A rare genetic adrenal disorder with characteristics of congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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