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

• SNOMED CT Concept\constatation clinique\...
• \Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Deformity (finding)\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Deformity (finding)\déformation d'un os\brachyphalangie\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Digestive system finding (finding)\Finding of mouth region (finding)\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Digestive system finding (finding)\maladie de l'appareil digestif\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 (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Digestive system finding (finding)\maladie de l'appareil digestif\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 (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Digestive system finding (finding)\maladie de l'appareil digestif\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 (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \constatation à propos de la structure d'un membre\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\brachyphalangie\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\brachyphalangie\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head region\Finding of mouth region (finding)\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\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 (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \affection de la tête\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \affection de la tête\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 (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \affection de la tête\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 (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\brachyphalangie\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\déformation d'un os\brachyphalangie\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\brachyphalangie\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\déformation d'un os\brachyphalangie\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\brachyphalangie\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\Genetic disease\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\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 (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\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 (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\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 (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\brachyphalangie\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\déformation d'un os\brachyphalangie\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\brachyphalangie\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\brachyphalangie\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\brachyphalangie\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\affection de la tête\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\affection de la tête\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 (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\affection de la tête\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 (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\Congenital disease\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\Congenital disease\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 (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\brachyphalangie\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\Congenital disease\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 (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\brachyphalangie\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\brachyphalangie\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\trouble du développement\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\trouble du développement\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 (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\brachyphalangie\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\trouble du développement\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 (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\brachyphalangie\Brachymesophalangia\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Oral-facial-digital syndrome with short stature and brachymesophalangia
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\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

Expanded Value Set

This concept is not in any reference sets

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