21390004: Developmental anomaly (morphologic abnormality)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
dysgenese	Is a	kongenit anomali	false	Inferred relationship	Some
dysgenese	Is a	Morphologically abnormal structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital pulmonary arteriovenous aneurysm	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS).	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital thickening of tarsal bone	Associated morphology	False	dysgenese	Inferred relationship	Some	1
A rare acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection.	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Preauricular dimple	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Nicolaides-Baraitser syndrome (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Oto-onycho-peroneal syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Oto-onycho-peroneal syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	6
Oto-onycho-peroneal syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	7
Oto-onycho-peroneal syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	8
A teratologic disorder associated with intrauterine exposure of phenobarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, finger hypoplasia, brachydactyly and hypospadias have been reported in rare cases.	Associated morphology	False	dysgenese	Inferred relationship	Some	1
McDonough syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism. There have been no further descriptions in the literature since 1984.	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Delayed membranous cranial ossification (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma.	Associated morphology	False	dysgenese	Inferred relationship	Some	5
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma.	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.	Associated morphology	False	dysgenese	Inferred relationship	Some	3
An early-onset distal osteolysis characterized by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait.	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterised by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterized by intellectual deficiency and seizures that are more severe in male patients.	Associated morphology	False	dysgenese	Inferred relationship	Some	2
A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability.	Associated morphology	False	dysgenese	Inferred relationship	Some	5
An early-onset distal osteolysis characterized by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait.	Associated morphology	False	dysgenese	Inferred relationship	Some	4
A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability.	Associated morphology	False	dysgenese	Inferred relationship	Some	4
A rare vascular anomaly or angioma characterized by the presence of small, multifocal bluish-purple venous lesions mainly involving the skin.	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon).	Associated morphology	False	dysgenese	Inferred relationship	Some	8
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.	Associated morphology	False	dysgenese	Inferred relationship	Some	4
GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992.	Associated morphology	False	dysgenese	Inferred relationship	Some	3
A rare genetic syndrome with limb reduction defects characterized by skeletal malformations comprising absent or hypoplastic pelvic bones (including sacral agenesis or hypoplasia), intercalary limb deficiencies (phocomelia potentially combined with polydactyly, oligodactyly or ectrodactyly), and skull defects (frequently a defect of the occipital bone with or without meningocele). Additional features may include thoracic dystrophy, dysmorphic facial features (dysplastic and large ears, and a high and narrow palate), and genital malformations (Mullerian aplasia, agenesis of the uterus and vagina, micropenis with cryptorchidism). Growth and mental development are not affected.	Associated morphology	False	dysgenese	Inferred relationship	Some	2
A rare disorder characterized by congenital anomalies or fetal/neonatal complications in an infant that are linked to diabetes in the mother.	Associated morphology	False	dysgenese	Inferred relationship	Some	2
A rare genetic eye disease characterized by abnormal proliferation of retinal tissue resulting in the formation of retinal folds, thereby causing gliosis and, clinically, variable degrees of visual impairment. No clinical findings other than those associated with the eyes have been demonstrated.	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS).	Associated morphology	False	dysgenese	Inferred relationship	Some	4
A rare autosomal recessive cerebellar ataxia characterized by early onset of non- or slowly progressive cerebellar signs and symptoms including truncal and gait ataxia, dysarthria, dysmetria, dysdiadochokinesis, tremor, and nystagmus. Delayed psychomotor development and intellectual disability are variable. Additional reported features are spasticity, hypotonia, cataracts, and sensorineural hearing loss, among others. Brain imaging shows cerebellar atrophy.	Associated morphology	False	dysgenese	Inferred relationship	Some	4
A diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures.	Associated morphology	False	dysgenese	Inferred relationship	Some	2
A rare X-linked malformation syndrome characterized by craniofacial abnormalities such as uni- or bicoronal synostosis, hypertelorism and a bifid nose, grooved or split nails, frizzy hair, abnormalities of the shoulder girdle, hands and feet.	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983.	Associated morphology	False	dysgenese	Inferred relationship	Some	2
A rare frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Indomethacin embryofetopathy refers to the manifestations that may be observed in a fetus or newborn when the mother has taken indomethacin, a potent prostaglandin inhibitor and tocolytic agent that can cross placenta, during pregnancy. Reported adverse fetal/neonatal effects include decreased renal function resulting in oligohydramnios, closure of the ductus arteriosus, and delayed cardiovascular adaptation at birth. These effects are usually transient and reversible. Indomethacin may also be a risk factor for cerebral injury (periventricular leukomalacia) and necrotizing enterocolitis in preterm infants.	Associated morphology	False	dysgenese	Inferred relationship	Some	1
A rare disorder characterized by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene.	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	4
A rare inclusion myopathy characterized by hypotonia and axial muscle weakness leading to spinal rigidity and development of scoliosis and other deformities which can result in respiratory failure. The symptoms are apparent from birth or early childhood. The muscle weakness is not progressive, and most patients remain ambulatory. Muscle biopsies show variable myopathic changes.	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Ischio-vertebral syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Deafness-craniofacial syndrome is characterized by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant.	Associated morphology	False	dysgenese	Inferred relationship	Some	4
A rare syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.	Associated morphology	False	dysgenese	Inferred relationship	Some	4
A rare ectodermal dysplasia syndrome characterized by the association of hypocalcified and hypoplastic tooth enamel, distal finger and toenail onycholysis with subungual hyperkeratosis, and functional hypohidrosis. Additional manifestations include seborrheic scalp dermatitis and rough, dry skin. Lacrimal punctum may be occasionally absent. There have been no further descriptions in the literature since 1975.	Associated morphology	False	dysgenese	Inferred relationship	Some	3
A rare syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.	Associated morphology	False	dysgenese	Inferred relationship	Some	9
A rare syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.	Associated morphology	False	dysgenese	Inferred relationship	Some	10
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterized by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit.	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterized by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit.	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterized by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit.	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive.	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital ptosis (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
A rare ectodermal dysplasia syndrome characterized by neonatal teeth, hypo- or oligodontia of the secondary dentition, flexural acanthosis nigricans, and sparse body and scalp hair (the latter being thin and slow-growing). There have been no further descriptions in the literature since 1995.	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital myogenic ptosis	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms.	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature.	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature.	Associated morphology	False	dysgenese	Inferred relationship	Some	6
A malformation syndrome reported in offspring (children and grandchildren) of women exposed to diethylstilbestrol (DES) during pregnancy and is characterised by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage.	Associated morphology	False	dysgenese	Inferred relationship	Some	1
A rare developmental anomaly characterized by midfacial hypoplasia affecting primarily the anterior part of the maxilla (premaxilla) and the nasal complex.	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Dyssegmental dysplasia with glaucoma syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	6
Cleft lip/palate-deafness-sacral lipoma syndrome is characterized by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non-consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive.	Associated morphology	False	dysgenese	Inferred relationship	Some	10
Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait.	Associated morphology	False	dysgenese	Inferred relationship	Some	3
A rare genetic disease characterized by variable multiple congenital craniofacial anomalies, including brachycephaly, cranium bifidum occultum, hypertelorism, midface hypoplasia, nasal hypoplasia, or cleft lip/palate, among others, as well as abnormalities of the eyes and eyelids. Encephalocele and spina bifida have also been reported in association.	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Xeroderma pigmentosum, group B	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Non-neurologic xeroderma pigmentosum	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Pigmenteret xeroderma	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Xeroderma pigmentosum, group C	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Xeroderma pigmentosum, group G	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Xeroderma pigmentosum, group F	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Xeroderma pigmentosum, group A	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Xeroderma pigmentosum	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Xeroderma pigmentosum, group E	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Xeroderma pigmentosum, group D	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Xeroderma pigmentosum, variant form	Associated morphology	False	dysgenese	Inferred relationship	Some	2
A rare developmental defect during embryogenesis mainly characterized by severe intellectual disability, short stature, hypogonadism, and distinct facial dysmorphism (including trigonocephaly, prominent forehead, asymmetric and flat face, hypertelorism, epicanthus, downslanting palpebral fissures, ptosis, low-set angulated ears, small mouth, high-arched/cleft palate crowded teeth, microretrognathia), as well as slender hands and/or feet. Variable additional features may include pterygia, hypoplastic nipples, cardiac anomaly, distal muscular wasting, limb contractures, skeletal anomalies (e.g. scoliosis, pectus excavatum, bilateral clubfeet), hypothyroidism, seizures, and cerebral anomalies. Puberty may be delayed.	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13.	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibulo-ulnar dysostosis with renal anomalies. It has been described in two siblings born to non-consanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait.	Associated morphology	False	dysgenese	Inferred relationship	Some	3
A very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with microcephaly, craniofacial dysmorphism, joint laxity and beaked nails.	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Ichthyosis cheek eyebrow syndrome (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Ichthyosis cheek eyebrow syndrome (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Limb body wall complex (LBWC) is characterized by severe multiple congenital anomalies in the fetus with exencephaly/encephalocele, thoraco- and/or abdominoschisis (anterior body wall defects) and limb defects, with or without facial clefts.	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.	Associated morphology	False	dysgenese	Inferred relationship	Some	6
A rare multiple congenital anomalies syndrome characterized by upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.	Associated morphology	False	dysgenese	Inferred relationship	Some	2
A rare multiple congenital anomalies syndrome characterized by upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.	Associated morphology	False	dysgenese	Inferred relationship	Some	3
A rare disorder characterized by the association of mullerian duct and distal limb anomalies. Females present with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males present with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand.	Associated morphology	False	dysgenese	Inferred relationship	Some	2
A rare disorder characterized by the association of mullerian duct and distal limb anomalies. Females present with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males present with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand.	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia.	Associated morphology	False	dysgenese	Inferred relationship	Some	3
A rare developmental defect during embryogenesis malformation syndrome characterized by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further descriptions in the literature since 1978.	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Short stature-valvular heart disease-characteristic facies syndrome is characterized by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait.	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents.	Associated morphology	False	dysgenese	Inferred relationship	Some	2
An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.	Associated morphology	False	dysgenese	Inferred relationship	Some	5
This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases.	Associated morphology	False	dysgenese	Inferred relationship	Some	1
A rare multiple congenital anomalies syndrome characterized by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. Variable manifestations include vertebral anomalies, cleft lip/palate, microphthalmia, absent nose, dysplastic ears, hearing loss, colobomas of the iris and retina and/or bifid uvula.	Associated morphology	False	dysgenese	Inferred relationship	Some	2
A rare multiple congenital anomalies syndrome characterized by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. Variable manifestations include vertebral anomalies, cleft lip/palate, microphthalmia, absent nose, dysplastic ears, hearing loss, colobomas of the iris and retina and/or bifid uvula.	Associated morphology	False	dysgenese	Inferred relationship	Some	3
A rare syndromic genetic deafness characterized by profound congenital bilateral sensorineural deafness, developmental delay, moderate intellectual disability, generalized delay in bone maturation, short stature, epiphyseal dysplasia particularly of the capital femoral epiphyses, and mild dysmorphic facial features such as prominent forehead and small, pointed chin. Bilateral obstruction of lacrimal ducts and inguinal and umbilical hernias have also been described.	Associated morphology	False	dysgenese	Inferred relationship	Some	5
A rare syndromic genetic deafness characterized by profound congenital bilateral sensorineural deafness, developmental delay, moderate intellectual disability, generalized delay in bone maturation, short stature, epiphyseal dysplasia particularly of the capital femoral epiphyses, and mild dysmorphic facial features such as prominent forehead and small, pointed chin. Bilateral obstruction of lacrimal ducts and inguinal and umbilical hernias have also been described.	Associated morphology	False	dysgenese	Inferred relationship	Some	6
A rare syndromic intellectual disability characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity.	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Thomas syndrome is characterized by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive.	Associated morphology	False	dysgenese	Inferred relationship	Some	2

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Reference Sets

Concept inactivation indicator reference set

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POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
183282017	Developmental anomaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190336012	Developmental malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190337015	Developmental defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190338013	Dysgenesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190339017	Anomalous formation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190340015	Abnormal development	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190341016	Malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
750678013	Developmental anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1208681014	Developmental abnormality	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2614401000005117	dysgenese	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)