771262009: Pseudoleprechaunism syndrome Patterson type (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\Pseudoleprechaunism syndrome Patterson type
\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Pseudoleprechaunism syndrome Patterson type
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Pseudoleprechaunism syndrome Patterson type
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type

\Viscus structure finding\Abdominal organ finding\Disorder of adrenal gland\Adrenal hyperfunction\Pseudoleprechaunism syndrome Patterson type

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Pseudoleprechaunism syndrome Patterson type

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Adrenal hyperfunction\Pseudoleprechaunism syndrome Patterson type
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Adrenal hyperfunction\Pseudoleprechaunism syndrome Patterson type
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Adrenal hyperfunction\Pseudoleprechaunism syndrome Patterson type
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Adrenal hyperfunction\Pseudoleprechaunism syndrome Patterson type

\Finding of general physiological development\Disorder of stature\Short stature disorder\Pseudoleprechaunism syndrome Patterson type

\General finding of soft tissue\Skin finding\Disorder of skin\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Pseudoleprechaunism syndrome Patterson type
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Pseudoleprechaunism syndrome Patterson type
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Pseudoleprechaunism syndrome Patterson type
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type
\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\Pseudoleprechaunism syndrome Patterson type
\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\Pseudoleprechaunism syndrome Patterson type
\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\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Pseudoleprechaunism syndrome Patterson type
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Pseudoleprechaunism syndrome Patterson type
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Pseudoleprechaunism syndrome Patterson type
\Functional finding\Increased hormone production\Adrenal hyperfunction\Pseudoleprechaunism syndrome Patterson type

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Pseudoleprechaunism syndrome Patterson type

\Endocrine finding\Increased hormone production\Adrenal hyperfunction\Pseudoleprechaunism syndrome Patterson type

\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Pseudoleprechaunism syndrome Patterson type
\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\Pseudoleprechaunism syndrome Patterson type
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Pseudoleprechaunism syndrome Patterson type
\Integumentary system finding\Skin finding\Disorder of skin\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Pseudoleprechaunism syndrome Patterson type
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Pseudoleprechaunism syndrome Patterson type
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type

\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Pseudoleprechaunism syndrome Patterson type
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type
\Disease\Degenerative disorder\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Adrenal hyperfunction\Pseudoleprechaunism syndrome Patterson type
\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\Pseudoleprechaunism syndrome Patterson type
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type
\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\Pseudoleprechaunism syndrome Patterson type
\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\Pseudoleprechaunism syndrome Patterson type
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Pseudoleprechaunism syndrome Patterson type
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Adrenal hyperfunction\Pseudoleprechaunism syndrome Patterson type
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Pseudoleprechaunism syndrome Patterson type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Pseudoleprechaunism syndrome Patterson type
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Pseudoleprechaunism syndrome Patterson type
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Pseudoleprechaunism syndrome Patterson type
\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\Pseudoleprechaunism syndrome Patterson type
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Pseudoleprechaunism syndrome Patterson type
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Pseudoleprechaunism syndrome Patterson type
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Pseudoleprechaunism syndrome Patterson type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Pseudoleprechaunism syndrome Patterson type
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Pseudoleprechaunism syndrome Patterson type

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3705333018 Patterson syndrome en Synonym Active Case sensitive SNOMED CT core

3705334012 Pseudoleprechaunism syndrome Patterson type (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3705335013 Pseudoleprechaunism syndrome Patterson type en Synonym Active Initial character case insensitive SNOMED CT core

3705336014 Patterson pseudoleprechaunism syndrome en Synonym Active Case sensitive SNOMED CT core

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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pseudoleprechaunism syndrome Patterson type	Has interpretation	Increased	true	Inferred relationship	Some	2
Pseudoleprechaunism syndrome Patterson type	Interprets	Hormone production	true	Inferred relationship	Some	2
Pseudoleprechaunism syndrome Patterson type	Occurrence	Congenital	true	Inferred relationship	Some	1
Pseudoleprechaunism syndrome Patterson type	Finding site	Skin structure	true	Inferred relationship	Some	1
Pseudoleprechaunism syndrome Patterson type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Pseudoleprechaunism syndrome Patterson type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Pseudoleprechaunism syndrome Patterson type	Associated morphology	Hyperpigmentation	true	Inferred relationship	Some	1
Pseudoleprechaunism syndrome Patterson type	Finding site	Adrenal structure	true	Inferred relationship	Some	3
Pseudoleprechaunism syndrome Patterson type	Is a	Functional finding	false	Inferred relationship	Some
Pseudoleprechaunism syndrome Patterson type	Is a	Hyperpigmentation of skin	true	Inferred relationship	Some
Pseudoleprechaunism syndrome Patterson type	Is a	Increased hormone production	false	Inferred relationship	Some
Pseudoleprechaunism syndrome Patterson type	Interprets	Height / growth measure	true	Inferred relationship	Some	4
Pseudoleprechaunism syndrome Patterson type	Interprets	Intellectual ability	true	Inferred relationship	Some	5
Pseudoleprechaunism syndrome Patterson type	Has interpretation	Impaired	true	Inferred relationship	Some	5
Pseudoleprechaunism syndrome Patterson type	Interprets	Adaptation behaviour	true	Inferred relationship	Some	6
Pseudoleprechaunism syndrome Patterson type	Has interpretation	Impaired	true	Inferred relationship	Some	6
Pseudoleprechaunism syndrome Patterson type	Is a	Adrenal hyperfunction	true	Inferred relationship	Some
Pseudoleprechaunism syndrome Patterson type	Is a	Short stature disorder	true	Inferred relationship	Some
Pseudoleprechaunism syndrome Patterson type	Is a	Intellectual disability	true	Inferred relationship	Some
Pseudoleprechaunism syndrome Patterson type	Is a	Congenital pigmentary skin anomalies	true	Inferred relationship	Some
Pseudoleprechaunism syndrome Patterson type	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Pseudoleprechaunism syndrome Patterson type	Is a	Degenerative disorder	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3705333018	Patterson syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3705334012	Pseudoleprechaunism syndrome Patterson type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3705335013	Pseudoleprechaunism syndrome Patterson type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3705336014	Patterson pseudoleprechaunism syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core