726029005: McCune Albright syndrome (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\McCune Albright syndrome
\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Café au lait spots\McCune Albright syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\McCune Albright syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\McCune Albright syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Café au lait spots\McCune Albright syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Precocious puberty\McCune Albright syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Disorder of endocrine gonad\Precocious puberty\McCune Albright syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Precocious puberty\McCune Albright syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Precocious puberty\McCune Albright syndrome

\Mass of body structure\Mass of musculoskeletal structure\Neoplasm of musculoskeletal system\Neoplasm of skeletal system\Neoplasm of bone\Benign neoplasm of bone\Fibrous dysplasia of bone\McCune Albright syndrome

\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\McCune Albright syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\McCune Albright syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Café au lait spots\McCune Albright syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\McCune Albright syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Café au lait spots\McCune Albright syndrome
\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\McCune Albright syndrome
\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\McCune Albright syndrome
\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\Café au lait spots\McCune Albright syndrome

\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\McCune Albright syndrome
\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\McCune Albright syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Café au lait spots\McCune Albright syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\McCune Albright syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\McCune Albright syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\McCune Albright syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Café au lait spots\McCune Albright syndrome

\Musculoskeletal finding\Mass of musculoskeletal structure\Neoplasm of musculoskeletal system\Neoplasm of skeletal system\Neoplasm of bone\Benign neoplasm of bone\Fibrous dysplasia of bone\McCune Albright syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Neoplasm of bone\Benign neoplasm of bone\Fibrous dysplasia of bone\McCune Albright syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Neoplasm of musculoskeletal system\Neoplasm of skeletal system\Neoplasm of bone\Benign neoplasm of bone\Fibrous dysplasia of bone\McCune Albright syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Neoplasm of skeletal system\Neoplasm of bone\Benign neoplasm of bone\Fibrous dysplasia of bone\McCune Albright syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Neoplasm of bone\Benign neoplasm of bone\Fibrous dysplasia of bone\McCune Albright syndrome

\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\McCune Albright syndrome
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Café au lait spots\McCune Albright syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of musculoskeletal system\Neoplasm of skeletal system\Neoplasm of bone\Benign neoplasm of bone\Fibrous dysplasia of bone\McCune Albright syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Benign neoplastic disease\Benign neoplasm of bone\Fibrous dysplasia of bone\McCune Albright syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Precocious puberty\McCune Albright syndrome
\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\McCune Albright syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Café au lait spots\McCune Albright syndrome
\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\McCune Albright syndrome
\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\McCune Albright syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Café au lait spots\McCune Albright syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\McCune Albright syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Precocious puberty\McCune Albright syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Neoplasm of musculoskeletal system\Neoplasm of skeletal system\Neoplasm of bone\Benign neoplasm of bone\Fibrous dysplasia of bone\McCune Albright syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Neoplasm of skeletal system\Neoplasm of bone\Benign neoplasm of bone\Fibrous dysplasia of bone\McCune Albright syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Neoplasm of bone\Benign neoplasm of bone\Fibrous dysplasia of bone\McCune Albright syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Precocious puberty\McCune Albright syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\McCune Albright syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\McCune Albright syndrome
\Disease\Congenital disease\Fibrous dysplasia of bone\McCune Albright syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\McCune Albright syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Café au lait spots\McCune Albright syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\McCune Albright syndrome
\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\McCune Albright syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Café au lait spots\McCune Albright syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\McCune Albright syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\McCune Albright syndrome
\Disease\Developmental disorder\Disorder of puberty\Precocious puberty\McCune Albright syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3447579018 McCune Albright syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3447580015 McCune Albright syndrome en Synonym Active Case sensitive SNOMED CT core

3447581016 A rare syndrome that is classically defined by the clinical triad of fibrous dysplasia of bone, cafe-au-lait skin spots and precocious puberty. The disease can involve single or multiple skeletal sites and presents with a limp and/or pain and occasionally, a pathologic fracture. Scoliosis is common and may be progressive. The disease results from somatic mutations of the GNAS gene, specifically mutations in the cAMP-regulating protein, Gs alpha. The extent of the disease is determined by the proliferation, migration and survival of the cell in which the mutation spontaneously occurs during embryonic development. The disease is rarely associated with malignancy however malignant transformation of fibrous dysplasia lesions occurs in probably less than 1% patients. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
McCune Albright syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
McCune Albright syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
McCune Albright syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	3
McCune Albright syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
McCune Albright syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
McCune Albright syndrome	Is a	Congenital pigmentary skin anomalies	true	Inferred relationship	Some
McCune Albright syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
McCune Albright syndrome	Finding site	Bone structure	true	Inferred relationship	Some	3
McCune Albright syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
McCune Albright syndrome	Finding site	Skin structure	true	Inferred relationship	Some	2
McCune Albright syndrome	Associated morphology	Pigment alteration	true	Inferred relationship	Some	2
McCune Albright syndrome	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	1
McCune Albright syndrome	Associated morphology	Dysplasia	false	Inferred relationship	Some	3
McCune Albright syndrome	Associated morphology	Dysplasia	false	Inferred relationship	Some	4
McCune Albright syndrome	Finding site	Cartilage structure	false	Inferred relationship	Some	4
McCune Albright syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
McCune Albright syndrome	Is a	Osteochondropathy	false	Inferred relationship	Some
McCune Albright syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
McCune Albright syndrome	Is a	Congenital anomaly of skeletal bone	false	Inferred relationship	Some
McCune Albright syndrome	Associated morphology	Fibrous dysplasia	true	Inferred relationship	Some	3
McCune Albright syndrome	Is a	Disorder of endocrine gonad	false	Inferred relationship	Some
McCune Albright syndrome	Associated morphology	Maturation acceleration	true	Inferred relationship	Some	4
McCune Albright syndrome	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	4
McCune Albright syndrome	Is a	Fibrous dysplasia of bone	true	Inferred relationship	Some
McCune Albright syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
McCune Albright syndrome	Is a	Café au lait spots	true	Inferred relationship	Some
McCune Albright syndrome	Is a	Disorganised development of cartilaginous and fibrous components of the skeleton	false	Inferred relationship	Some
McCune Albright syndrome	Is a	Precocious puberty	true	Inferred relationship	Some
McCune Albright syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
McCune Albright syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
McCune Albright syndrome	Occurrence	Congenital	false	Inferred relationship	Some	7
McCune Albright syndrome	Finding site	Gonadal endocrine structure	false	Inferred relationship	Some	5
McCune Albright syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	6
McCune Albright syndrome	Finding site	Bone structure	false	Inferred relationship	Some	6
McCune Albright syndrome	Associated morphology	Pigment alteration	false	Inferred relationship	Some	7
McCune Albright syndrome	Finding site	Skin structure	false	Inferred relationship	Some	7

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Neoplasm and/or hamartoma reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3447579018	McCune Albright syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3447580015	McCune Albright syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3447581016	A rare syndrome that is classically defined by the clinical triad of fibrous dysplasia of bone, cafe-au-lait skin spots and precocious puberty. The disease can involve single or multiple skeletal sites and presents with a limp and/or pain and occasionally, a pathologic fracture. Scoliosis is common and may be progressive. The disease results from somatic mutations of the GNAS gene, specifically mutations in the cAMP-regulating protein, Gs alpha. The extent of the disease is determined by the proliferation, migration and survival of the cell in which the mutation spontaneously occurs during embryonic development. The disease is rarely associated with malignancy however malignant transformation of fibrous dysplasia lesions occurs in probably less than 1% patients.	en	Definition	Active	Case sensitive	SNOMED CT core