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65094009: Multiple malformation syndrome with facial defects as major feature (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
108174011 Multiple malformation syndrome with facial defects as major feature en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
804559017 Multiple malformation syndrome with facial defects as major feature (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
108174011 Multiple malformation syndrome with facial defects as major feature en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
108174011 Multiple malformation syndrome with facial defects as major feature en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
804559017 Multiple malformation syndrome with facial defects as major feature (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
804559017 Multiple malformation syndrome with facial defects as major feature (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4603111000241111 syndrome d'anomalies congénitales multiples avec anomalies faciales comme caractéristiques principales fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4603111000241111 syndrome d'anomalies congénitales multiples avec anomalies faciales comme caractéristiques principales fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

565 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Multiple malformation syndrome with facial defects as major feature Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with facial defects as major feature Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with facial defects as major feature Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with facial defects as major feature Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome with facial defects as major feature Is a Congenital anomaly of face (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with facial defects as major feature Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome with facial defects as major feature Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome with facial defects as major feature Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome with facial defects as major feature Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Tall stature, intellectual disability, renal anomalies syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Fried syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Kosaki overgrowth syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with marfanoid habitus (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Metopic ridging, ptosis, facial dysmorphism syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Gabriele-de Vries syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay, intellectual disability, early-onset seizures, and facial dysmorphism (including arched eyebrows, long palpebral fissures, prominent nasal bridge, large ears, thin upper lip, and high arched palate). Other reported features are microcephaly, hypotonia, growth retardation, congenital heart defects, and malformations of the fingers and toes, as well as additional neurologic manifestations (such as ataxia or spastic quadriplegia). Brain imaging may show hypoplastic corpus callosum, white matter abnormalities, or cortical atrophy. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Mucopolysaccharidosis-like plus disease Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Witteveen Kolk syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterised by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behaviour, and café-au-lait spots, among others. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Macrocephaly, intellectual disability, left ventricular non compaction syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Basel Vanagaite Smirin Yosef syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Hallermann Streiff like syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Sanjad Sakati syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic syndromic intellectual disability characterized by moderate to severe intellectual deficiency, language deficit (completely absent or significantly impaired speech), and distinctive facial dysmorphism (long face, straight eyebrows, and, less frequently, low-set ears and café-au-lait spots). Additional, variably observed features include motor delays, behavioral difficulties, and seizures. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Fryns Smeets Thiry syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterised by congenital hydrocephalus involving the lateral ventricles, low-set umbilicus, bilateral inguinal hernia, and mild facial dysmorphism (such as epicanthal folds, broad, flat nasal bridge, and small, bulbous nose). Additional reported manifestations include unilateral cryptorchidism, vesicoureteral reflux, and tetralogy of Fallot. There have been no further descriptions in the literature since 1993. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
SATB2-associated syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, overweight or obesity, behavioral abnormalities (including hyperactivity, aggressive behavior, anxiety, mood disorder, or autistic features), and facial dysmorphism (such as high forehead, full eyebrows and/or synophrys, upturned nose, and fleshy ears, among others). Additional reported manifestations are hypotonia, ocular anomalies, anomalies of the fingers and toes, joint hypermobility, or abnormal pigmentation. Brain imaging may show mild nonspecific abnormalities. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare mandibulofacial dysostosis characterized by the association with scalp alopecia and sparse eyebrows and eyelashes. Craniofacial dysmorphic features include zygomatic and mandibular dysplasia or hypoplasia, cleft palate, micrognathia, dental anomalies, auricular dysmorphism, and eyelid anomalies, among others. Patients may experience limited jaw mobility, glossoptosis, upper airway obstruction, and conductive hearing loss. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
QRICH1-related intellectual disability, chondrodysplasia syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Keppen Lubinsky syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Pierpont syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
1p35.2 microdeletion syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare, X-linked, multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome characterized by developmental delay, mild to moderate intellectual disability, speech disturbance, behavioral problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures, and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
9q21.13 microdeletion syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Lethal brain and heart developmental defects syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
11q22.2q22.3 microdeletion syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A multiple congenital anomalies/dysmorphic - intellectual disability syndrome characterized by feeding problems, growth retardation, microcephaly, developmental delay, digital and vertebral anomalies, joint laxity/dislocation, cardiac and renal defects, and dysmorphic facial features (including plagiocephaly, prominent forehead, bitemporal narrowing, bilateral coloboma, epicanthal folds, malformations of the outer and middle ear, wide nasal bridge, anteverted nares, prominent and bulbous nose tip, long philtrum, thin lips, high and narrow palate, micrognathia with prognathism/retrognathism, full cheeks, and short, broad neck). Additional variable manifestations include obstructive apneas, recurrent pneumonia, and seizures. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of slowly progressive night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facial features (periorbital anomalies, malar flatness, retrognathia). Additional manifestations include myopia and extinguished electroretinograms. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
PYCR2-related microcephaly, progressive leucoencephalopathy Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Cerebellar-facial-dental syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Lamb Shaffer syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome) corresponds to the appearance of BWS in elderly patients. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Menke Hennekam syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localised aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Marden Walker syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis, microretrognathia, severe intellectual disability syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterized by a highly variable phenotype comprising ocular anomalies (congenital glaucoma, myopia, retinal detachment, and/or Axenfeld-Rieger anomaly), congenital hypothyroidism, hearing loss, microcephaly, dental defects, kidney anomalies, cerebrovascular anomalies, and distal limb anomalies. Dysmorphic facial features may include square face with prominent jaw, broad flat nasal bridge, short philtrum, and prominent ears. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Triopia Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
de Barsey syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Clark Baraitser syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pontocerebellar hypoplasia type 11 (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pontocerebellar hypoplasia type 12 Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 2-related blepharophimosis, intellectual disability syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Cyclin K-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Developmental delay, overweight, facial dysmorphism, behavioral abnormalities syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Asymmetric crying facies syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
2p21 microdeletion syndrome without cystinuria (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)

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