1216943004: mandibulofaciale dysostose met alopecia (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin finding\...

\Hair finding\Disorder of hair\Alopecia\Mandibulofacial dysostosis with alopecia

\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Mandibulofacial dysostosis with alopecia

\Head finding (finding)\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Lesion of face\Congenital facial dysplasia (disorder)\Mandibulofacial dysostosis with alopecia
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital facial dysplasia (disorder)\Mandibulofacial dysostosis with alopecia
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Mandibulofacial dysostosis with alopecia
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Congenital facial dysplasia (disorder)\Mandibulofacial dysostosis with alopecia
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital facial dysplasia (disorder)\Mandibulofacial dysostosis with alopecia
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Mandibulofacial dysostosis with alopecia
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital facial dysplasia (disorder)\Mandibulofacial dysostosis with alopecia
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Mandibulofacial dysostosis with alopecia
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Alopecia\Mandibulofacial dysostosis with alopecia
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Mandibulofacial dysostosis with alopecia
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Mandibulofacial dysostosis with alopecia

\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Mandibulofacial dysostosis with alopecia
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Alopecia\Mandibulofacial dysostosis with alopecia
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Mandibulofacial dysostosis with alopecia

\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Mandibulofacial dysostosis with alopecia
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Mandibulofacial dysostosis with alopecia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Mandibulofacial dysostosis with alopecia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Mandibulofacial dysostosis with alopecia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Mandibulofacial dysostosis with alopecia

\Disease\Genetic disease\Mandibulofacial dysostosis with alopecia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Congenital facial dysplasia (disorder)\Mandibulofacial dysostosis with alopecia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Dysostosis\Mandibulofacial dysostosis with alopecia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Mandibulofacial dysostosis with alopecia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital facial dysplasia (disorder)\Mandibulofacial dysostosis with alopecia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Mandibulofacial dysostosis with alopecia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Mandibulofacial dysostosis with alopecia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Mandibulofacial dysostosis with alopecia
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Mandibulofacial dysostosis with alopecia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Mandibulofacial dysostosis with alopecia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Mandibulofacial dysostosis with alopecia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Mandibulofacial dysostosis with alopecia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Mandibulofacial dysostosis with alopecia
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Congenital facial dysplasia (disorder)\Mandibulofacial dysostosis with alopecia
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital facial dysplasia (disorder)\Mandibulofacial dysostosis with alopecia
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Mandibulofacial dysostosis with alopecia
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital facial dysplasia (disorder)\Mandibulofacial dysostosis with alopecia
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Mandibulofacial dysostosis with alopecia
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Mandibulofacial dysostosis with alopecia
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Mandibulofacial dysostosis with alopecia
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Congenital facial dysplasia (disorder)\Mandibulofacial dysostosis with alopecia
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Dysostosis\Mandibulofacial dysostosis with alopecia
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Mandibulofacial dysostosis with alopecia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital facial dysplasia (disorder)\Mandibulofacial dysostosis with alopecia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Mandibulofacial dysostosis with alopecia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Mandibulofacial dysostosis with alopecia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Mandibulofacial dysostosis with alopecia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5033768010 Mandibulofacial dysostosis with alopecia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5033769019 MFDA - mandibulofacial dysostosis with alopecia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5033770018 Mandibulofacial dysostosis with alopecia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

13587091000146119 mandibulofaciale dysostose met kaalheid nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13587101000146114 MFDA nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13587111000146111 mandibulofaciale dysostose met alopecia (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13587121000146118 mandibulofaciale dysostose met alopecia nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

5033771019 A rare mandibulofacial dysostosis with the association with scalp alopecia and sparse eyebrows and eyelashes. Craniofacial dysmorphic features include zygomatic and mandibular dysplasia or hypoplasia, cleft palate, micrognathia, dental anomalies, auricular dysmorphism and eyelid anomalies among others. Patients may experience limited jaw mobility, glossoptosis, upper airway obstruction and conductive hearing loss. 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
Mandibulofacial dysostosis with alopecia	Is a	Dysostosis	true	Inferred relationship	Some
Mandibulofacial dysostosis with alopecia	Is a	Congenital anomaly of face bones	true	Inferred relationship	Some
Mandibulofacial dysostosis with alopecia	Is a	Alopecia	true	Inferred relationship	Some
Mandibulofacial dysostosis with alopecia	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Mandibulofacial dysostosis with alopecia	Is a	Lesion of face	false	Inferred relationship	Some
Mandibulofacial dysostosis with alopecia	Is a	Genetic disease	true	Inferred relationship	Some
Mandibulofacial dysostosis with alopecia	Occurrence	Congenital	true	Inferred relationship	Some	1
Mandibulofacial dysostosis with alopecia	Finding site	Bone structure of face	true	Inferred relationship	Some	1
Mandibulofacial dysostosis with alopecia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Mandibulofacial dysostosis with alopecia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Mandibulofacial dysostosis with alopecia	Finding site	Hair structure (body structure)	true	Inferred relationship	Some	2
Mandibulofacial dysostosis with alopecia	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	2
Mandibulofacial dysostosis with alopecia	Is a	Congenital facial dysplasia (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets