1177179002: Oral-facial-digital syndrome with short stature and brachymesophalangia (disorder)

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

\Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachyphalangia\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Deformity (finding)\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachyphalangia\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Deformity (finding)\Deformity of bone\Brachyphalangia\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia

\Digestive system finding (finding)\Finding of mouth region (finding)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding (finding)\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Oral-facial-digital syndrome with short stature and brachymesophalangia

\Finding of limb structure\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachyphalangia\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachyphalangia\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia

\Finding of general physiological development\Disorder of stature\Short stature disorder\Oral-facial-digital syndrome with short stature and brachymesophalangia

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\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\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia

\Finding of head and neck region\Head finding (finding)\...

\Finding of head region\Finding of mouth region (finding)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Finding of head region\Finding of mouth region (finding)\Oral cavity finding (finding)\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\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\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia

\Disorder of head (disorder)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia

\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Deformity of bone\Brachyphalangia\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Deformity of bone\Brachyphalangia\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia

\Disease\Genetic disease\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\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\Brachyphalangia\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Deformity of bone\Brachyphalangia\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachyphalangia\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Disorder of head (disorder)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachyphalangia\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachyphalangia\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachyphalangia\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachyphalangia\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oral-facial-digital syndrome with short stature and brachymesophalangia
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Oral-facial-digital syndrome with short stature and brachymesophalangia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4643913018 OFD18 - oral-facial-digital syndrome type 18 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4643914012 Orofaciodigital syndrome type 18 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4643917017 Oral-facial-digital syndrome with short stature and brachymesophalangia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4643918010 Oral-facial-digital syndrome with short stature and brachymesophalangia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4643916014 A rare ciliopathy with characteristics of oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangia, polydactyly) and short stature. Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

14469481000172118 syndrome oro-facio-digital avec petite taille et brachymésophalangie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

14469491000172115 OFD18 - syndrome oro-facio-digital de type 18 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

14469501000172113 syndrome oro-facio-digital de type 18 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7382121000172116 orofaciodigitaal syndroom met kleine gestalte en brachymesofalangie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7382131000172118 oraal-faciaal-digitaal syndroom met kleine gestalte en hypoplasie van middenkootje nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7382141000172113 OFD-syndroom type 18 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Oral-facial-digital syndrome with short stature and brachymesophalangia	Is a	Brachymesophalangia	true	Inferred relationship	Some
Oral-facial-digital syndrome with short stature and brachymesophalangia	Is a	Short stature disorder	true	Inferred relationship	Some
Oral-facial-digital syndrome with short stature and brachymesophalangia	Is a	Oral-facial-digital syndrome	true	Inferred relationship	Some
Oral-facial-digital syndrome with short stature and brachymesophalangia	Interprets	Body height measure (observable entity)	true	Inferred relationship	Some	5
Oral-facial-digital syndrome with short stature and brachymesophalangia	Has interpretation	Below reference range	true	Inferred relationship	Some	5
Oral-facial-digital syndrome with short stature and brachymesophalangia	Occurrence	Congenital	true	Inferred relationship	Some	1
Oral-facial-digital syndrome with short stature and brachymesophalangia	Finding site	Entire middle phalanx	true	Inferred relationship	Some	1
Oral-facial-digital syndrome with short stature and brachymesophalangia	Associated morphology	Abnormally short growth	true	Inferred relationship	Some	1
Oral-facial-digital syndrome with short stature and brachymesophalangia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Oral-facial-digital syndrome with short stature and brachymesophalangia	Occurrence	Congenital	true	Inferred relationship	Some	2
Oral-facial-digital syndrome with short stature and brachymesophalangia	Finding site	Ectoderm structure	true	Inferred relationship	Some	2
Oral-facial-digital syndrome with short stature and brachymesophalangia	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Oral-facial-digital syndrome with short stature and brachymesophalangia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Oral-facial-digital syndrome with short stature and brachymesophalangia	Occurrence	Congenital	true	Inferred relationship	Some	3
Oral-facial-digital syndrome with short stature and brachymesophalangia	Finding site	Structure of internal part of mouth	true	Inferred relationship	Some	3
Oral-facial-digital syndrome with short stature and brachymesophalangia	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Oral-facial-digital syndrome with short stature and brachymesophalangia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Oral-facial-digital syndrome with short stature and brachymesophalangia	Occurrence	Congenital	true	Inferred relationship	Some	4
Oral-facial-digital syndrome with short stature and brachymesophalangia	Finding site	Face structure	true	Inferred relationship	Some	4
Oral-facial-digital syndrome with short stature and brachymesophalangia	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	4
Oral-facial-digital syndrome with short stature and brachymesophalangia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Oral-facial-digital syndrome with short stature and brachymesophalangia	Occurrence	Congenital	true	Inferred relationship	Some	6
Oral-facial-digital syndrome with short stature and brachymesophalangia	Finding site	Skin structure	true	Inferred relationship	Some	6
Oral-facial-digital syndrome with short stature and brachymesophalangia	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	6
Oral-facial-digital syndrome with short stature and brachymesophalangia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	6

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4643913018	OFD18 - oral-facial-digital syndrome type 18	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4643914012	Orofaciodigital syndrome type 18	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4643917017	Oral-facial-digital syndrome with short stature and brachymesophalangia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4643918010	Oral-facial-digital syndrome with short stature and brachymesophalangia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4643916014	A rare ciliopathy with characteristics of oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangia, polydactyly) and short stature. Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
14469481000172118	syndrome oro-facio-digital avec petite taille et brachymésophalangie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
14469491000172115	OFD18 - syndrome oro-facio-digital de type 18	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
14469501000172113	syndrome oro-facio-digital de type 18	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7382121000172116	orofaciodigitaal syndroom met kleine gestalte en brachymesofalangie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7382131000172118	oraal-faciaal-digitaal syndroom met kleine gestalte en hypoplasie van middenkootje	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7382141000172113	OFD-syndroom type 18	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)