726029005: McCune-Albright-syndroom (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\McCune Albright syndrome (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)\Café au lait spots\McCune Albright syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\McCune Albright syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\McCune Albright syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Café au lait spots\McCune Albright syndrome (disorder)

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

\Mass of body structure\Mass of musculoskeletal structure\Neoplasm of musculoskeletal system (disorder)\...

\Benign neoplasm of musculoskeletal system (disorder)\Benign neoplasm of bone\Fibrous dysplasia of bone\McCune Albright syndrome (disorder)

\Neoplasm of skeletal system (disorder)\Neoplasm of bone\Benign neoplasm of bone\Fibrous dysplasia of bone\McCune Albright syndrome (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\McCune Albright syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\McCune Albright syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Café au lait spots\McCune Albright syndrome (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\McCune Albright syndrome (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)\Café au lait spots\McCune Albright syndrome (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\McCune Albright syndrome (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)\Café au lait spots\McCune Albright syndrome (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\McCune Albright syndrome (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\McCune Albright syndrome (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)\Café au lait spots\McCune Albright syndrome (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\McCune Albright syndrome (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\McCune Albright syndrome (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)\Café au lait spots\McCune Albright syndrome (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\McCune Albright syndrome (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\McCune Albright syndrome (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)\Café au lait spots\McCune Albright syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\McCune Albright syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\McCune Albright syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Café au lait spots\McCune Albright syndrome (disorder)

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case sensitive (core metadata concept) SNOMED CT core

3447580015 McCune Albright syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

6672121000146113 syndroom van McCune-Albright nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6672141000146119 McCune-Albright-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6672161000146118 polyostotische fibreuze dysplasie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6672181000146114 MAS nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6672191000146111 PFD nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6672211000146110 POFD nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10670021000146115 McCune-Albright-syndroom (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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 Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Overproduction of growth hormone associated with McCune-Albright syndrome (disorder)	Associated with	True	McCune Albright syndrome (disorder)	Inferred relationship	Some	1

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3447579018	McCune Albright syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3447580015	McCune Albright syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6672121000146113	syndroom van McCune-Albright	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6672141000146119	McCune-Albright-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6672161000146118	polyostotische fibreuze dysplasie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6672181000146114	MAS	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6672191000146111	PFD	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6672211000146110	POFD	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10670021000146115	McCune-Albright-syndroom (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	SNOMED CT core